DMD c.6232C>T ;(p.L2078F)

Variant ID: X-32305704-G-A

NM_004006.2(DMD):c.6232C>T;(p.L2078F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


RYR1 causing distal myopathy.

Molecular Genetics & Genomic Medicine
Laughlin, Ruple S RS; Niu, Zhiyv Z; Wieben, Eric E; Milone, Margherita M
Publication Date: 2017-11

Variant appearance in text: DMD: Leu2078Phe
PubMed Link: 29178655
Variant Present in the following documents:
  • Main text
  • MGG3-5-800.pdf
View BVdb publication page