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PAH c.795C>A ;(p.C265*)
Variant ID: 12-103246640-G-T
NM_000277.1(
PAH
):c.795C>A;(p.C265*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Scientific Reports
Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Tao, Jing J; Chen, Song S; Li, Xiaohong X; Deng, Ying Y; Jin, Xi X; Song, Jiaping J; Zhang, Liangtao L; Liang, Yu Y; Wang, Wei W; Zhu, Jun J
Publication Date: 2015-10-27
Variant appearance in text: PAH: C265*
PubMed Link:
26503515
Variant Present in the following documents:
Main text
View BVdb publication page
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
Pediatric Research
Tao, Jing J; Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Li, Xiaohong X; Song, Jiaping J; Deng, Ying Y; Jin, Xi X; Zhu, Jun J
Publication Date: 2015-12
Variant appearance in text: PAH: 795C>A; C265*
PubMed Link:
26322415
Variant Present in the following documents:
pr2015167a.pdf
View BVdb publication page