CACNA1A c.974A>G ;(p.Y325C)

Variant ID: 19-13470424-T-C

NM_001127222.1(CACNA1A):c.974A>G;(p.Y325C)

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: MHP: Y325C
PubMed Link: 17924342
Variant Present in the following documents:
  • Main text
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