GLA c.338T>G ;(p.F113C)

Variant ID: X-100658830-A-C

NM_000169.2(GLA):c.338T>G;(p.F113C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GLA: F113C
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Multifocal white matter lesions associated with the D313Y mutation of the α-galactosidase A gene.

Plos One
Lenders, Malte M; Duning, Thomas T; Schelleckes, Michael M; Schmitz, Boris B; Stander, Sonja S; Rolfs, Arndt A; Brand, Stefan-Martin SM; Brand, Eva E
Publication Date: 2013

Variant appearance in text: GLA: F113C
PubMed Link: 23393592
Variant Present in the following documents:
  • Main text
  • pone.0055565.pdf
View BVdb publication page