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PAH c.379G>A ;(p.E127K)
Variant ID: 12-103271302-C-T
NM_000277.1(
PAH
):c.379G>A;(p.E127K)
This variant was identified in 1 publication
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: E127K
PubMed Link:
26503515
Variant Present in the following documents:
Main text
srep15769.pdf
View BVdb publication page