GLA c.634C>T ;(p.Q212*)

Variant ID: X-100655659-G-A

NM_000169.2(GLA):c.634C>T;(p.Q212*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Fabry disease.

Orphanet Journal Of Rare Diseases
Germain, Dominique P DP
Publication Date: 2010-11-22

Variant appearance in text: GLA: 634C>T
PubMed Link: 21092187
Variant Present in the following documents:
  • Main text
  • 1750-1172-5-30.pdf
View BVdb publication page