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PAH c.755G>C ;(p.R252P)
Variant ID: 12-103246680-C-G
NM_000277.1(
PAH
):c.755G>C;(p.R252P)
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:
Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders.
Yonago Acta Medica
Ebiki, Mitsutaka M; Okazaki, Tetsuya T; Kai, Masachika M; Adachi, Kaori K; Nanba, Eiji E
Publication Date: 2019-09
Variant appearance in text: PAH: 755G>C; Arg252Pro
PubMed Link:
31582890
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: 755G>C; Arg252Pro
PubMed Link:
29316886
Variant Present in the following documents:
12881_2017_Article_516.pdf
View BVdb publication page