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.




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