DMD c.6378_6436del ;(p.F2126Lfs*77)

Variant ID: X-32235035-TTAAGATACCATTTGTATTTAGCATGTTCCCAATTCTCAGGAATTTGTGTCTTTCTGAGA-T

NM_004006.2(DMD):c.6378_6436del;(p.F2126Lfs*77)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.

Orphanet Journal Of Rare Diseases
Nicolas, Aurélie A; Lucchetti-Miganeh, Céline C; Yaou, Rabah Ben RB; Kaplan, Jean-Claude JC; Chelly, Jamel J; Leturcq, France F; Barloy-Hubler, Frédérique F; Le Rumeur, Elisabeth E
Publication Date: 2012-07-09

Variant appearance in text: DMD: Val495_Lys2146del
PubMed Link: 22776072
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-45.pdf
View BVdb publication page