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.

52 entries on 1 page. Showing entries 1 - 52.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

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ClinVar ID     

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+/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Parent #2 - pathogenic g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Braun 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - STGD - PubMed: Braun 2013 2-generation family, 2 affecteds, unaffected carrier parent/sibs - no United States - - - - - 2 Johan den Dunnen
?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - VUS g.94495177A>G g.94029621A>G c.4363T>C - ABCA4_000023 - PubMed: Rosenberg 2007 - - Germline - 2, 109474, 0, 0.00001827 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - VUS g.94495177A>G g.94029621A>G Cys1455Arg TGT>CGT - ABCA4_000023 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 2, 109474, 0, 0.00001827 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - VUS g.94495177A>G g.94029621A>G c.4363T>C - ABCA4_000023 - PubMed: Zernant 2011 - - Germline - 2, 109474, 0, 0.00001827 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic g.94495177A>G g.94029621A>G 4363T>C - ABCA4_000023 - PubMed: Westeneng-van Haaften 2012 - - Germline - 2, 109474, 0, 0.00001827 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - VUS g.94495177A>G g.94029621A>G 4363T>C - ABCA4_000023 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - - Germline - 2, 109474, 0, 0.00001827 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - M ? Netherlands ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic g.94495177A>G g.94029621A>G p.Cys1455Arg - ABCA4_000023 - PubMed: Fujinami 2013 - - Germline ? 2, 109474, 0, 0.00001827 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 The putative benign p.Ile156Val variant was also found at this allele. ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4363T>C r.(4363u>c) p.(Cys1455Arg) Parent #1 ACMG pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic g.94495177A>G g.94029621A>G - - ABCA4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Parent #1 - pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamDPatIII1 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
+/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown - pathogenic (recessive) g.94495177A>G - 1:94495177A>G ENST00000370225.3:c.4363T>C (Cys1455Arg) - ABCA4_000023 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005506 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic g.94495177A>G - 1:94495177A>G ENST00000370225.3:c.4363T>C (Cys1455Arg) - ABCA4_000023 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G008169 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.4363T>C r.(?) p.(Cys1455Arg) Parent #1 - likely pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Bryant 2018 - rs758835368 Germline - - - - - DNA SEQ-NG - WES retinal disease JB333 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. - c.4363T>C r.(?) p.(Cys1455Arg) Parent #2 - likely pathogenic g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 706 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Parent #1 - likely pathogenic (recessive) g.94495177A>G g.94029621A>G p.[Cys1455Arg];c.[5714+5G>A] - ABCA4_000023 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 24 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Parent #1 - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T>C p.(Cys1455Arg) - ABCA4_000023 no variant 2nd chromosome PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 12 PubMed: Lambertus 2016 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T>C, - ABCA4_000023 - PubMed: Cai 2018 - - Unknown - - - - - DNA ? - - retinal disease P6 PubMed: Cai 2018 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T>C, p.Cys1455Arg - ABCA4_000023 - PubMed: Khan 2018 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease 31625765 PubMed: Khan 2018 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T>C,p.Cys1455Arg - ABCA4_000023 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11007 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Parent #1 - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T>C p.(Cys1455Arg) - ABCA4_000023 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease D-III:1 PubMed: Sangermano 2019 PubMed: Runhart 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T>C; - ABCA4_000023 - PubMed: Light 2017 - - Unknown - - - - - DNA ? - - retinal disease P4 PubMed: Light 2017 - F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Paternal (confirmed) - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T>C p.Cys1455Arg (paternal) - ABCA4_000023 - PubMed: Hull 2020 - - Unknown yes - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1140 PubMed: Hull 2020 - - ? New Zealand white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G ENST00000370225.3:c.4363T>C p.Cys1455Arg 0/1 - ABCA4_000023 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G005506 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T.C p.Cys1455Arg - ABCA4_000023 - PubMed: Bryant 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease JB333 PubMed: Bryant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T>C, p.Cys1455Arg Heterozygous - ABCA4_000023 - PubMed: Goetz 2020 - - Unknown - 2, 109474, 0, 0.00001827 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3059-3784 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T>C, p.Cys1455Arg Heterozygous - ABCA4_000023 - PubMed: Goetz 2020 - - Unknown - 2, 109474, 0, 0.00001827 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5257-6351 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T > C, p.C1455R - ABCA4_000023 - PubMed: Fujinami 2014 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Case 1 PubMed: Fujinami 2014 - F yes - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Parent #2 - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.[768G>T];p.[Cys1455Arg] - ABCA4_000023 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 17*† PubMed: Fujinami 2015 previously described by Fujinami et al., 2013 - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T>C Cys1455Arg TGT>CGT - ABCA4_000023 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 706 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.1654 G>Ac.4363 T>C - ABCA4_000023 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 20 PubMed: Schroeder 2018 - F ? Sweden - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T>C,p.Cys1455Arg - ABCA4_000023 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14017 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T.C p.Cys1455Arg - ABCA4_000023 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P16 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T>C p.(Cys1455Arg) - ABCA4_000023 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - GEDi retinal disease OGI-549-1123 PubMed: Consugar 2015 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G ENST00000370225.3:c.4363T>C p.Cys1455Arg 0/1 - ABCA4_000023 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G008169 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G g.94029621A>G c.4363T>C, p.Cys1455Arg Heterozygous - ABCA4_000023 - PubMed: Goetz 2020 - - Unknown - 2, 109474, 0, 0.00001827 - - - DNA SEQ - - retinal disease 3495-5187 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic g.94495177A>G g.94029621A>G ABCA4 c.4363T>C, p.Cys1455Arg - ABCA4_000023 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008169 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic g.94495177A>G g.94029621A>G ABCA4 c.4363T>C, p.Cys1455Arg - ABCA4_000023 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005506 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G - c.4363T>C p.(Cys1455Arg) - ABCA4_000023 - PubMed: Bax 2019 - - Unknown ? - - - - DNA PE, SEQ - - retinal disease 12 PubMed: Bax 2019 - ? ? Netherlands - - - - - 1 LOVD
+?/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Unknown - likely pathogenic (recessive) g.94495177A>G - c.4363T>C - ABCA4_000023 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71303 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown ACMG pathogenic g.94495177A>G g.94029621A>G ABCA4 c.4363T>C, p.(Cys1455Arg) - ABCA4_000023 compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 50_59 PubMed: Zhu 2022 family 50, individual 59 F - - - - - - - 1 LOVD
+/. 30 c.4363T>C r.(?) p.(Cys1455Arg) Parent #1 ACMG pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat193 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown - pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0464 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown - pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0511 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown - pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-6 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown - pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-19 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-6 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown ACMG pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-157 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown ACMG pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-162 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown ACMG pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-105 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown - pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-320 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown - pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-332 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown - pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-367 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4363T>C r.(?) p.(Cys1455Arg) Unknown - pathogenic (recessive) g.94495177A>G g.94029621A>G - - ABCA4_000023 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-170 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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