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GLA c.170A>G ;(p.Q57R)
Variant ID: X-100662722-T-C
NM_000169.2(
GLA
):c.170A>G;(p.Q57R)
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:
Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review.
International Journal Of Environmental Research And Public Health
Caputo, Fabio F; Lungaro, Lisa L; Galdi, Adriana A; Zoli, Eleonora E; Giancola, Fiorella F; Caio, Giacomo G; De Giorgio, Roberto R; Zoli, Giorgio G
Publication Date: 2021-03-23
Variant appearance in text: GLA: 170A>G; Gln57Arg
PubMed Link:
33807115
Variant Present in the following documents:
Main text
ijerph-18-03320.pdf
View BVdb publication page
Urine bikunin as a marker of renal impairment in Fabry's disease.
Biomed Research International
Lepedda, Antonio Junior AJ; Fancellu, Laura L; Zinellu, Elisabetta E; De Muro, Pierina P; Nieddu, Gabriele G; Deiana, Giovanni Andrea GA; Canu, Piera P; Concolino, Daniela D; Sestito, Simona S; Formato, Marilena M; Sechi, Gianpietro G
Publication Date: 2013
Variant appearance in text: GLA: Gln57Arg
PubMed Link:
23841057
Variant Present in the following documents:
Main text
BMRI2013-205948.pdf
View BVdb publication page