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PAH c.1159T>G ;(p.Y387D)
Variant ID: 12-103237464-A-C
NM_000277.1(
PAH
):c.1159T>G;(p.Y387D)
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:
Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.
Bioscience Reports
Qiang, Rong R; Wang, Lin L; He, JinHua J; Xu, Wei Jie WJ; Li, Wei W; Cai, Na N; Wang, Xiao Bin XB; Zhang, RuiXue R; Zhang, Li Ping LP; Ma, Xiao Ping XP; Wei, Chen C; Song, ChengRong C; Yu, WenWen W; Wang, Xiang X; Li, Xu X
Publication Date: 2021-02-26
Variant appearance in text: PAH: 1159T>G; Y387D
PubMed Link:
33564846
Variant Present in the following documents:
Main text
bsr-41-bsr20201660.pdf
View BVdb publication page
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: Y387D
PubMed Link:
26503515
Variant Present in the following documents:
Main text
srep15769.pdf
View BVdb publication page