PAH c.795C>A ;(p.C265*)

Variant ID: 12-103246640-G-T

NM_000277.1(PAH):c.795C>A;(p.C265*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: C265*
PubMed Link: 26503515
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.

Pediatric Research
Tao, Jing J; Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Li, Xiaohong X; Song, Jiaping J; Deng, Ying Y; Jin, Xi X; Zhu, Jun J
Publication Date: 2015-12

Variant appearance in text: PAH: 795C>A; C265*
PubMed Link: 26322415
Variant Present in the following documents:
  • pr2015167a.pdf
View BVdb publication page