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PAH c.904T>G ;(p.F302V)
Variant ID: 12-103245473-A-C
NM_000277.1(
PAH
):c.904T>G;(p.F302V)
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:
Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity.
Nature Communications
Shi, Xiaohan X; Li, Yunguang Y; Yuan, Qiuyue Q; Tang, Shijie S; Guo, Shiwei S; Zhang, Yehan Y; He, Juan J; Zhang, Xiaoyu X; Han, Ming M; Liu, Zhuang Z; Zhu, Yiqin Y; Gao, Suizhi S; Wang, Huan H; Xu, Xiongfei X; Zheng, Kailian K; Jing, Wei W; Chen, Luonan L; Wang, Yong Y; Jin, Gang G; Gao, Dong D
Publication Date: 2022-04-21
Variant appearance in text: PAH: F302V
PubMed Link:
35449156
Variant Present in the following documents:
41467_2022_29857_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.
Scientific Reports
Chen, Ting T; Xu, Weize W; Wu, Dingwen D; Han, Jiamin J; Zhu, Ling L; Tong, Fan F; Yang, Rulai R; Zhao, Zhengyan Z; Jiang, Pingping P; Shu, Qiang Q
Publication Date: 2018-11-20
Variant appearance in text: PAH: 904T>G; F302V
PubMed Link:
30459323
Variant Present in the following documents:
Main text
41598_2018_35373_MOESM1_ESM.pdf
41598_2018_Article_35373.pdf
View BVdb publication page