DMD c.16G>A ;(p.E6K)

Variant ID: X-33229414-C-T

NM_004006.2(DMD):c.16G>A;(p.E6K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

Plos One
Babić Božović, Ivana I; Maver, Aleš A; Leonardis, Lea L; Meznaric, Marija M; Osredkar, Damjan D; Peterlin, Borut B
Publication Date: 2021

Variant appearance in text: DMD: 16G>A; Glu6Lys
PubMed Link: 34106991
Variant Present in the following documents:
  • Main text
View BVdb publication page