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.




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