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.




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