DMD c.10500_10501del ;(p.S3500Rfs*14)

Variant ID: X-31187611-TCA-T

NM_004006.2(DMD):c.10500_10501del;(p.S3500Rfs*14)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.

Human Genetics
Okubo, Mariko M; Noguchi, Satoru S; Hayashi, Shinichiro S; Nakamura, Harumasa H; Komaki, Hirofumi H; Matsuo, Masafumi M; Nishino, Ichizo I
Publication Date: 2020-02

Variant appearance in text: DMD: 10500_10501delTG; Ser3500Argfs*14
PubMed Link: 31919629
Variant Present in the following documents:
  • Main text
  • 439_2019_Article_2107.pdf
View BVdb publication page