PAH c.548A>G ;(p.E183G)

Variant ID: 12-103249072-T-C

NM_000277.1(PAH):c.548A>G;(p.E183G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 548A>G; Glu183Gly
PubMed Link: 29316886
Variant Present in the following documents:
  • 12881_2017_Article_516.pdf
View BVdb publication page



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: Glu183Gly
PubMed Link: 28754886
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_6462.pdf
View BVdb publication page