GLA c.192_193insG ;(p.S65Efs*2)

Variant ID: X-100662699-T-TC

NM_000169.2(GLA):c.192_193insG;(p.S65Efs*2)

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:

Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease).

Journal Of Inherited Metabolic Disease
Hůlková, Helena H; Elleder, Milan M
Publication Date: 2010-12

Variant appearance in text: N/A
PubMed Link: 20628902
Variant Present in the following documents:
View BVdb publication page