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GLA c.886_887del ;(p.M296Vfs*2)
Variant ID: X-100653470-CAT-C
NM_000169.2(
GLA
):c.886_887del;(p.M296Vfs*2)
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:
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Diagnostics (Basel, Switzerland)
Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K
Publication Date: 2021-09-27
Variant appearance in text: GLA: 886_887delAT
PubMed Link:
34679477
Variant Present in the following documents:
Main text
diagnostics-11-01779.pdf
View BVdb publication page
Prevalence of Fabry disease in male dialysis patients: Argentinean screening study.
Jimd Reports
Frabasil, JoaquĆn J; Durand, Consuelo C; Sokn, Silvia S; Gaggioli, Daniela D; Carozza, Patricia P; Carabajal, Ricardo R; Politei, Juan J; Schenone, Andrea B AB
Publication Date: 2019-07
Variant appearance in text: GLA: 886_887delAT
PubMed Link:
31392112
Variant Present in the following documents:
Main text
JMD2-48-45.pdf
View BVdb publication page