DMD c.3010A>T ;(p.K1004*)

Variant ID: X-32486767-T-A

NM_004006.2(DMD):c.3010A>T;(p.K1004*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Bmc Medical Genetics
Magri, Francesca F; Del Bo, Roberto R; D'Angelo, Maria G MG; Govoni, Alessandra A; Ghezzi, Serena S; Gandossini, Sandra S; Sciacco, Monica M; Ciscato, Patrizia P; Bordoni, Andreina A; Tedeschi, Silvana S; Fortunato, Francesco F; Lucchini, Valeria V; Cereda, Matteo M; Corti, Stefania S; Moggio, Maurizio M; Bresolin, Nereo N; Comi, Giacomo P GP
Publication Date: 2011-03-11

Variant appearance in text: DMD: Lys1004X
PubMed Link: 21396098
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-37.pdf
View BVdb publication page