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GLA c.1012G>T ;(p.E338*)
Variant ID: X-100653075-C-A
NM_000169.2(
GLA
):c.1012G>T;(p.E338*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Orphanet Journal Of Rare Diseases
Lenders, Malte M; Hennermann, Julia B JB; Kurschat, Christine C; Rolfs, Arndt A; Canaan-Kühl, Sima S; Sommer, Claudia C; Üçeyler, Nurcan N; Kampmann, Christoph C; Karabul, Nesrin N; Giese, Anne-Katrin AK; Duning, Thomas T; Stypmann, Jörg J; Krämer, Johannes J; Weidemann, Frank F; Brand, Stefan-Martin SM; Wanner, Christoph C; Brand, Eva E
Publication Date: 2016-06-29
Variant appearance in text: GLA: E338X
PubMed Link:
27356758
Variant Present in the following documents:
Main text
13023_2016_Article_473.pdf
View BVdb publication page