DMD c.4188T>G ;(p.Y1396*)

Variant ID: X-32429914-A-C

NM_004006.2(DMD):c.4188T>G;(p.Y1396*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

The Journal Of Molecular Diagnostics : Jmd
Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2010-01

Variant appearance in text: DMD: Y1396X
PubMed Link: 19959795
Variant Present in the following documents:
  • Main text
View BVdb publication page