PAH c.228G>C ;(p.E76D)

Variant ID: 12-103288637-C-G

NM_000277.1(PAH):c.228G>C;(p.E76D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.

Scientific Reports
Zhu, Tianwen T; Ye, Jun J; Han, Lianshu L; Qiu, Wenjuan W; Zhang, Huiwen H; Liang, Lili L; Gu, Xuefan X
Publication Date: 2017-07-28

Variant appearance in text: PAH: Glu76Asp
PubMed Link: 28754886
Variant Present in the following documents:
View BVdb publication page