DMD c.8562A>C ;(p.E2854D)

Variant ID: X-31497206-T-G

NM_004006.2(DMD):c.8562A>C;(p.E2854D)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Derivation and Characterization of Immortalized Human Muscle Satellite Cell Clones from Muscular Dystrophy Patients and Healthy Individuals.

Cells
Massenet, Jimmy J; Gitiaux, Cyril C; Magnan, Mélanie M; Cuvellier, Sylvain S; Hubas, Arnaud A; Nusbaum, Patrick P; Dilworth, F Jeffrey FJ; Desguerre, Isabelle I; Chazaud, Bénédicte B
Publication Date: 2020-07-26

Variant appearance in text: DMD: Glu2854Asp
PubMed Link: 32722643
Variant Present in the following documents:
  • Main text
  • cells-09-01780.pdf
View BVdb publication page