Full data view for gene PAH

Information The variants shown are described using the NM_000277.1 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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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     
+/. - c.727C>T r.(?) p.(Arg243Ter) Unknown - pathogenic g.103246708G>A g.102852930G>A PAH(NM_000277.1):c.727C>T (p.R243*), PAH(NM_000277.3):c.727C>T (p.R243*) - PAH_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.727C>T r.(?) p.(Arg243Ter) Unknown - pathogenic g.103246708G>A g.102852930G>A PAH(NM_000277.1):c.727C>T (p.R243*), PAH(NM_000277.3):c.727C>T (p.R243*) - PAH_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.727C>T r.(?) p.(Arg243Ter) Unknown - pathogenic g.103246708G>A g.102852930G>A PAH(NM_000277.1):c.727C>T (p.R243*), PAH(NM_000277.3):c.727C>T (p.R243*) - PAH_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #1 - pathogenic (recessive) g.103246708G>A g.102852930G>A - - PAH_000088 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat79 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #2 - pathogenic (recessive) g.103246708G>A g.102852930G>A - - PAH_000088 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat21 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - - - - 1 Liliana Fernández
+/. 7 c.727C>T r.(?) p.(Arg243Ter) Unknown - pathogenic g.103246708G>A g.102852930G>A - - PAH_000088 combination of alleles not reported PubMed: Yan 2019 - - Germline - 1/253 cases classic PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 1 Johan den Dunnen
+/. 7 c.727C>T r.(?) p.(Arg243Ter) Unknown - pathogenic g.103246708G>A g.102852930G>A - - PAH_000088 combination of alleles not reported PubMed: Yan 2019 - - Germline - 1/150 cases moderate PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 1 Johan den Dunnen
+/. 7 c.727C>T r.(?) p.(Arg243Ter) Parent #1 - pathogenic (recessive) g.103246708G>A g.102852930G>A - - PAH_000088 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 1/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243*) Parent #1 - pathogenic (recessive) g.103246708G>A - - - PAH_000088 - PubMed: Trujillano 2014 - rs5030846 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU G2 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243*) Parent #1 - pathogenic (recessive) g.103246708G>A - - - PAH_000088 - PubMed: Trujillano 2014 - rs5030846 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU H9 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243*) Parent #2 - pathogenic (recessive) g.103246708G>A - - - PAH_000088 - PubMed: Trujillano 2014 - rs5030846 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU D3 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243*) Parent #2 - pathogenic (recessive) g.103246708G>A - - - PAH_000088 - PubMed: Trujillano 2014 - rs5030846 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU G11 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #1 - pathogenic g.103246708G>A g.102852930G>A - - PAH_000088 no variant 2nd chromosome PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA MLPA, SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #1 - pathogenic (recessive) g.103246708G>A g.102852930G>A - - PAH_000088 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #1 - pathogenic (recessive) g.103246708G>A g.102852930G>A - - PAH_000088 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A - - PAH_000088 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #1 - pathogenic (recessive) g.103246708G>A g.102852930G>A - - PAH_000088 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #1 - pathogenic (recessive) g.103246708G>A g.102852930G>A - - PAH_000088 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #2 - pathogenic (recessive) g.103246708G>A g.102852930G>A - - PAH_000088 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #2 - pathogenic (recessive) g.103246708G>A g.102852930G>A - - PAH_000088 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A - - PAH_000088 - PubMed: Groselj 2012 - - Germline - 2/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat65 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #1 - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat79 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat88 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat100 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat102 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat119 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat155 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat156 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat158 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat167 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat202 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat272 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat306 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat311 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat366 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat395 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat451 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat476 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat492 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat495 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat516 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat540 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Both (homozygous) - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat616 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #2 - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, MLPA, SEQ - - PKU Pat30 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #2 - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat83 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #2 - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat124 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #2 - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat455 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #2 - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat485 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #2 - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat508 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #2 - pathogenic (recessive) g.103246708G>A g.102852930G>A R243* - PAH_000088 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat522 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #2 - pathogenic (recessive) g.103246708G>A g.102852930G>A R243X - PAH_000088 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Unknown - pathogenic (recessive) g.103246708G>A g.102852930G>A R243X - PAH_000088 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 2/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 2 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243*) Paternal (confirmed) - pathogenic (recessive) g.103246708G>A - - - PAH_000088 - PubMed: Razipour 2017 - - Germline - - - - - DNA SEQ - - PKU patient PubMed: Razipour 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Iran - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Unknown - pathogenic (recessive) g.103246708G>A g.102852930G>A R243X - PAH_000088 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 3/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 3 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #1 - pathogenic (recessive) g.103246708G>A g.102852930G>A R243X - PAH_000088 - PubMed: Perez-Duenas 2004 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #1 - pathogenic (recessive) g.103246708G>A g.102852930G>A R243X - PAH_000088 - PubMed: Perez-Duenas 2004 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #1 - pathogenic (recessive) g.103246708G>A g.102852930G>A R243X - PAH_000088 - PubMed: Perez-Duenas 2004 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243Ter) Parent #2 - pathogenic (recessive) g.103246708G>A g.102852930G>A R243X - PAH_000088 - PubMed: Perez-Duenas 2004 - - Germline - 221/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.727C>T r.(?) p.(Arg243Ter) Unknown - pathogenic (recessive) g.103246708G>A g.102852930G>A - - PAH_000088 - PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.727C>T r.(?) p.(Arg243Ter) Unknown - pathogenic g.103246708G>A - PAH(NM_000277.1):c.727C>T (p.R243*), PAH(NM_000277.3):c.727C>T (p.R243*) - PAH_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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