GLA c.108_109insCTGGC ;(p.A37Lfs*86)

Variant ID: X-100662783-C-CGCCAG

NM_000169.2(GLA):c.108_109insCTGGC;(p.A37Lfs*86)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Newborn screening for lysosomal storage disorders in hungary.

Jimd Reports
Wittmann, Judit J; Karg, Eszter E; Turi, Sàndor S; Legnini, Elisa E; Wittmann, Gyula G; Giese, Anne-Katrin AK; Lukas, Jan J; Gölnitz, Uta U; Klingenhäger, Michael M; Bodamer, Olaf O; Mühl, Adolf A; Rolfs, Arndt A
Publication Date: 2012

Variant appearance in text: GLA: 108insCTGGC
PubMed Link: 23430949
Variant Present in the following documents:
  • Main text
View BVdb publication page