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PAH c.607T>A ;(p.C203S)
Variant ID: 12-103249013-A-T
NM_000277.1(
PAH
):c.607T>A;(p.C203S)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Bmc Medical Genetics
Liu, Ning N; Huang, Qiuying Q; Li, Qingge Q; Zhao, Dehua D; Li, Xiaole X; Cui, Lixia L; Bai, Ying Y; Feng, Yin Y; Kong, Xiangdong X
Publication Date: 2018-01-09
Variant appearance in text: PAH: 607T>A; Cys203Ser
PubMed Link:
29316886
Variant Present in the following documents:
12881_2017_Article_516.pdf
View BVdb publication page
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Bmc Medical Genetics
Liu, Ning N; Huang, Qiuying Q; Li, Qingge Q; Zhao, Dehua D; Li, Xiaole X; Cui, Lixia L; Bai, Ying Y; Feng, Yin Y; Kong, Xiangdong X
Publication Date: 2017-10-05
Variant appearance in text: PAH: 607T>A; Cys203Ser
PubMed Link:
28982351
Variant Present in the following documents:
Main text
12881_2017_Article_467.pdf
View BVdb publication page
Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis.
Plos Medicine
Lefebvre, Celine C; Bachelot, Thomas T; Filleron, Thomas T; Pedrero, Marion M; Campone, Mario M; Soria, Jean-Charles JC; Massard, Christophe C; Lévy, Christelle C; Arnedos, Monica M; Lacroix-Triki, Magali M; Garrabey, Julie J; Boursin, Yannick Y; Deloger, Marc M; Fu, Yu Y; Commo, Frédéric F; Scott, Véronique V; Lacroix, Ludovic L; Dieci, Maria Vittoria MV; Kamal, Maud M; Diéras, Véronique V; Gonçalves, Anthony A; Ferrerro, Jean-Marc JM; Romieu, Gilles G; Vanlemmens, Laurence L; Mouret Reynier, Marie-Ange MA; Théry, Jean-Christophe JC; Le Du, Fanny F; Guiu, Séverine S; Dalenc, Florence F; Clapisson, Gilles G; Bonnefoi, Hervé H; Jimenez, Marta M; Le Tourneau, Christophe C; André, Fabrice F
Publication Date: 2016-12
Variant appearance in text: PAH: Cys203Ser
PubMed Link:
28027327
Variant Present in the following documents:
pmed.1002201.s012.xlsx, sheet 1
View BVdb publication page