Full data view for gene ABCA4


The expert classification of the variants can be found here.

To other Inherited Retinal Disease gene variant database:
Information The variants shown are described using the NM_000350.2 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 2 c.71G>A r.(?) p.(Arg24His) Unknown - likely pathogenic g.94578618C>T g.94113062C>T R24H - ABCA4_000252 - PubMed: Lewis 1999, PubMed: Shroyer 2001 - - Germline - ExAC 23, 120444, 0, 0.000191 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999, PubMed: Shroyer 2001 3-generation family, 6 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24His) Unknown - likely pathogenic g.94578618C>T g.94113062C>T R24H - ABCA4_000252 - PubMed: Lewis 1999, PubMed: Shroyer 2001 - - Germline - ExAC 23, 120444, 0, 0.000191 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999, PubMed: Shroyer 2001 3-generation family, 6 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24His) Unknown - likely pathogenic g.94578618C>T g.94113062C>T R24H - ABCA4_000252 - PubMed: Lewis 1999, PubMed: Shroyer 2001 - - Germline - ExAC 23, 120444, 0, 0.000191 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999, PubMed: Shroyer 2001 3-generation family, 6 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24His) Unknown - likely pathogenic g.94578618C>T g.94113062C>T R24H - ABCA4_000252 - PubMed: Lewis 1999, PubMed: Shroyer 2001 - - Germline ? ExAC 23, 120444, 0, 0.000191 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999, PubMed: Shroyer 2001 3-generation family, 6 affected M ? United States white - - - - 1 Stéphanie Cornelis
+/. 2 c.71G>A r.(?) p.(Arg24His) Unknown - pathogenic g.94578618C>T g.94113062C>T c.71G>A - ABCA4_000252 - PubMed: Zernant 2011 - - Germline - 23, 120444, 0, 0.000191 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 2 c.71G>A r.(?) p.(Arg24His) Unknown - VUS g.94578618C>T g.94113062C>T c.71G>A - ABCA4_000252 - PubMed: Chacón-Camacho 2013 - - Germline - 23, 120444, 0, 0.000191 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24His) Unknown - likely pathogenic g.94578618C>T g.94113062C>T c.71G>A - ABCA4_000252 - PubMed: Fujinami 2013 - - Germline - 23, 120444, 0, 0.000191 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 2 c.71G>A r.(?) p.(Arg24His) Unknown - pathogenic g.94578618C>T g.94113062C>T c.71G>A, p.Arg24His - ABCA4_000252 - PubMed: Fujinami 2013 - - Germline - 23, 120444, 0, 0.000191 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 2 c.71G>A r.(?) p.(Arg24His) Unknown - VUS g.94578618C>T g.94113062C>T c.71G>A - ABCA4_000252 - PubMed: Jinda 2014, PubMed: Jinda 2017 - - Germline - 23, 120444, 0, 0.000191 - - - DNA SEQ-NG-I, SEQ - - retinal disease - PubMed: Jinda 2014 - M ? Thailand ? - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24His) Unknown - likely pathogenic g.94578618C>T g.94113062C>T c.71G>A - ABCA4_000252 - PubMed: Bauwens 2014 - - Germline - 23, 120444, 0, 0.000191 - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - M ? Belgium ? - - - - 1 Stéphanie Cornelis
+/. 2 c.71G>A r.(71g>a) p.(Arg24His) Parent #1 ACMG pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.71G>A r.(?) p.(Arg24His) Unknown - likely pathogenic g.94578618C>T g.94113062C>T ABCA4(NM_000350.2):c.71G>A (p.R24H) - ABCA4_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.71G>A r.(?) p.(Arg24His) Unknown - pathogenic g.94578618C>T g.94113062C>T ABCA4(NM_000350.2):c.71G>A (p.R24H) - ABCA4_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.71G>A r.(?) p.(Arg24His) Parent #1 - likely pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 2 Global Variome, with Curator vacancy
-?/. - c.71G>A r.(?) p.(Arg24His) Unknown - likely benign g.94578618C>T g.94113062C>T - - ABCA4_000252 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.016 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
+?/. 2 c.71G>A r.(?) p.(Met1Ile) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71G>A p.R24H - ABCA4_000252 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 20959 PubMed: Fakin 2016 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71G.A - ABCA4_000252 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 24 PubMed: Klufas 2017 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71G.A - ABCA4_000252 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 23 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71G>A (p.Arg24His) - ABCA4_000252 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3478 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.[71G>A;5882G>A] (p.[Arg24His;Gly1961Glu]) - ABCA4_000252 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9012 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71G>A (p.Arg24His) - ABCA4_000252 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9032 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Parent #1 - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71G>A (p.Arg24His) - ABCA4_000252 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3085 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T p.R24H - ABCA4_000252 - PubMed: Ciccone 2018PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 8; 34 PubMed: Ciccone 2018PubMed: Chen 2019 patient possibly reported by Zernant et al., 2011 and 2014 M ? United States Asia - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Parent #1 - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.[71G>A; 5603A>T] - ABCA4_000252 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P12G2 PubMed: Bauwens 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71 G>A - ABCA4_000252 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 769 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71 G>A - ABCA4_000252 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 770 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71G>A - ABCA4_000252 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F12 P13 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71G>A p.(Arg24His) - ABCA4_000252 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5635 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71G>A p.Arg24His het - ABCA4_000252 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - ABCA4 Panel retinal disease 2016-279-099 Prevention Genetics - - ? - China - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71G>A p.Arg24His Het - ABCA4_000252 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-190-109 Prevention Genetics - - ? - Cambodia - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24His) Parent #2 - likely pathogenic (recessive) g.94578618C>T g.94113062C>T p.R24H - ABCA4_000252 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10077 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71G>A p.Arg24His - ABCA4_000252 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0365 PubMed: Georgiou 2019 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71G>A p.Arg24His het - ABCA4_000252 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-090-233 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71G>A, p.Arg24His Heterozygous - ABCA4_000252 - PubMed: Goetz 2020 - - Unknown - 23, 120444, 0, 0.000191 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5237-6357 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 2 c.71G>A r.(?) p.(Arg24Cys) Unknown - likely pathogenic (recessive) g.94578618C>T g.94113062C>T c.71G>A, p.Arg24His Heterozygous - ABCA4_000252 - PubMed: Goetz 2020 - - Unknown - 23, 120444, 0, 0.000191 - - - DNA SEQ - - retinal disease 5854-7342 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. - c.71G>A r.(?) p.(Arg24His) Unknown - VUS g.94578618C>T g.94113062C>T ABCA4 c.71G>A, p.R24H - ABCA4_000252 no zygosity and pathogenicity classification indicated PubMed: Ng 2021 - - Unknown ? - - - - DNA SEQ blood whole exome sequencing retinal disease RP-014 PubMed: Ng 2021 - F ? China - - - - - 1 LOVD
+?/. - c.71G>A r.(?) p.(Arg24His) Unknown ACMG likely pathogenic g.94578618C>T g.94113062C>T ABCA4 c.71G>A(;)1804C>T, V2: c.71G>A, (p.Arg24His) - ABCA4_000252 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F117 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. 2 c.71G>A r.(?) p.(Arg24His) Unknown - likely pathogenic (recessive) g.94578618C>T - c.71G>A, p.Arg24His - ABCA4_000252 - PubMed: Fujinami 2013 - - Unknown ? - - - - DNA PE, SSCA, SEQ - - retinal disease 60 PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.71G>A r.(?) p.(Arg24His) Unknown - likely pathogenic g.94578618C>T g.94113062C>T ABCA4 c.71G>A(;)1804C>T; p.(Arg24His) - ABCA4_000252 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.000991; GnomAD_exome_East: 0.00147; GnomAD_All: 0.000179 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F117 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.71G>A r.(?) p.(Arg24His) Parent #1 - pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.71G>A r.(?) p.(Arg24His) Parent #1 - pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+?/. 2 c.71G>A r.(?) p.(Arg24His) Unknown - likely pathogenic (recessive) g.94578618C>T - c.71G>A - ABCA4_000252 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease DNA15-01202 PubMed: Khan 2020 - M - Netherlands - - - - - 1 LOVD
+/. 1 c.71G>A r.(?) p.(Arg24His) Parent #1 - pathogenic g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - - retinal disease Pat51 PubMed: Huang 2022 - - - Australia - - - - - 1 Johan den Dunnen
+/. 2 c.71G>A r.(?) p.(Arg24His) Parent #1 ACMG pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat8 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 2 c.71G>A r.(?) p.(Arg24His) Parent #1 ACMG pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat47 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.71G>A r.(?) p.(Arg24His) Unknown - pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0195 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.71G>A r.(?) p.(Arg24His) Unknown - pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0359 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.71G>A r.(?) p.(Arg24His) Unknown - pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0512 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.71G>A r.(?) p.(Arg24His) Both (homozygous) - pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0775 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.71G>A r.(?) p.(Arg24His) Both (homozygous) - pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0775 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.71G>A r.(?) p.(Arg24His) Unknown - pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-270 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.71G>A r.(?) p.(Arg24His) Unknown - pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-121 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.71G>A r.(?) p.(Arg24His) Unknown - pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-195 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.71G>A r.(?) p.(Arg24His) Unknown - pathogenic (recessive) g.94578618C>T g.94113062C>T - - ABCA4_000252 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-428 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.71G>A r.(?) p.(Arg24His) Unknown ACMG pathogenic g.94578618C>T g.94113062C>T - - ABCA4_000252 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy DNA15-01202 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.