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PAH c.699C>A ;(p.F233L)
Variant ID: 12-103248921-G-T
NM_000277.1(
PAH
):c.699C>A;(p.F233L)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 699C>A; Phe233Leu
PubMed Link:
29316886
Variant Present in the following documents:
12881_2017_Article_516.pdf
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: PAH: F233L
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page
Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.
Plos One
Gu, Ying Y; Lu, Kangmo K; Yang, Guanghui G; Cen, Zhong Z; Yu, Li L; Lin, Lin L; Hao, Jing J; Yang, Zhigang Z; Peng, Jiabao J; Cui, Shujian S; Huang, Jian J
Publication Date: 2014
Variant appearance in text: PAH: 699C>A; F233L
PubMed Link:
24705691
Variant Present in the following documents:
Main text
pone.0094100.pdf
pone.0094100.s009.xlsx, sheet 1
pone.0094100.s010.xlsx, sheet 1
View BVdb publication page