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.




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