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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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