Bibliome.ai browser hg19
Search
About
Stats
FAQ
PAH c.308G>A ;(p.G103D)
Variant ID: 12-103288557-C-T
NM_000277.1(
PAH
):c.308G>A;(p.G103D)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Follow-up of two newborns with c.158G>A (p.Arg53His) mutation in gene and assessment of the site function.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal Of Zhejiang University. Medical Sciences
Wang, Jie J; Zhu, Bo B; Zhang, Lichun L; Zhao, Yitong Y; Wang, Xiaohua X; Jia, Yueqi Y
Publication Date: 2021-08-25
Variant appearance in text: PAH: G103D
PubMed Link:
34704413
Variant Present in the following documents:
Main text
View BVdb publication page
The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.
Annals Of Translational Medicine
Su, Yajie Y; Wang, Huijun H; Rejiafu, Nuerya N; Wu, Bingbing B; Jiang, Haili H; Chen, Hongbo H; A, Xian X; Qian, Yanyan Y; Li, Mingzhu M; Lu, Yulan Y; Ren, Yan Y; Li, Long L; Zhou, Wenhao W
Publication Date: 2019-06
Variant appearance in text: PAH: 308G>A; G103D
PubMed Link:
31355225
Variant Present in the following documents:
Main text
View BVdb publication page
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: 308G>A; Gly103Asp
PubMed Link:
29316886
Variant Present in the following documents:
12881_2017_Article_516.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: G103D
PubMed Link:
26503515
Variant Present in the following documents:
Main text
srep15769.pdf
View BVdb publication page