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