PAH c.864G>T ;(p.L288F)

Variant ID: 12-103245513-C-A

NM_000277.1(PAH):c.864G>T;(p.L288F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics
Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A
Publication Date: 2007-11

Variant appearance in text: PAH: L288F
PubMed Link: 17924342
Variant Present in the following documents:
  • Main text
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