GLA c.877C>G ;(p.P293A)

Variant ID: X-100653480-G-C

NM_000169.2(GLA):c.877C>G;(p.P293A)

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: P293A
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One
Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H
Publication Date: 2013

Variant appearance in text: GLA: P293A
PubMed Link: 24386359
Variant Present in the following documents:
  • Main text
  • pone.0084267.pdf
View BVdb publication page