PAH c.1144T>A ;(p.F382I)

Variant ID: 12-103237479-A-T

NM_000277.1(PAH):c.1144T>A;(p.F382I)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

European Journal Of Human Genetics : Ejhg
Zhao, Sumin S; Xiang, Jiale J; Fan, Chunna C; Asan, ; Shang, Xuan X; Zhang, Xinhua X; Chen, Yan Y; Zhu, Baosheng B; Cai, Wangwei W; Chen, Shaoke S; Cai, Ren R; Guo, Xiaoling X; Zhang, Chonglin C; Zhou, Yuqiu Y; Huang, Shuodan S; Liu, Yanhui Y; Chen, Biyan B; Yan, Shanhuo S; Chen, Yajun Y; Ding, Hongmei H; Guo, Fengyu F; Wang, Yaoshen Y; Zhong, Wenwei W; Zhu, Yaping Y; Wang, Yaling Y; Chen, Chao C; Li, Yun Y; Huang, Hui H; Mao, Mao M; Yin, Ye Y; Wang, Jian J; Yang, Huanming H; Xu, Xiangmin X; Sun, Jun J; Peng, Zhiyu Z
Publication Date: 2019-02

Variant appearance in text: PAH: 1144T>A; Phe382Ile
PubMed Link: 30275481
Variant Present in the following documents:
  • Main text
  • 41431_2018_Article_253.pdf
View BVdb publication page