GLA c.806T>A ;(p.V269E)

Variant ID: X-100653551-A-T

NM_000169.2(GLA):c.806T>A;(p.V269E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rapid Clathrin-Mediated Uptake of Recombinant α-Gal-A to Lysosome Activates Autophagy.

Biomolecules
Ivanova, Margarita M MM; Dao, Julia J; Kasaci, Neil N; Adewale, Benjamin B; Fikry, Jacqueline J; Goker-Alpan, Ozlem O
Publication Date: 2020-05-30

Variant appearance in text: GLA: V269E
PubMed Link: 32486191
Variant Present in the following documents:
  • Main text
  • biomolecules-10-00837.pdf
  • biomolecules-10-00837-s001.pdf
View BVdb publication page



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: V269E
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page