PAH c.307G>T ;(p.G103C)

Variant ID: 12-103288558-C-A

NM_000277.1(PAH):c.307G>T;(p.G103C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

Jimd Reports
Ho, Gladys G; Alexander, Ian I; Bhattacharya, Kaustuv K; Dennison, Barbara B; Ellaway, Carolyn C; Thompson, Sue S; Wilcken, Bridget B; Christodoulou, John J
Publication Date: 2014

Variant appearance in text: PAH: 307G>T; G103C
PubMed Link: 24368688
Variant Present in the following documents:
  • Main text
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