PAH c.192C>A ;(p.H64Q)

Variant ID: 12-103288673-G-T

NM_000277.1(PAH):c.192C>A;(p.H64Q)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Nitrite signaling in pulmonary hypertension: mechanisms of bioactivation, signaling, and therapeutics.

Antioxidants & Redox Signaling
Bueno, Marta M; Wang, Jun J; Mora, Ana L AL; Gladwin, Mark T MT
Publication Date: 2013-05-10

Variant appearance in text: PAH: H64Q
PubMed Link: 22871207
Variant Present in the following documents:
  • Main text
View BVdb publication page