DMD c.343A>T ;(p.I115F)

Variant ID: X-32841426-T-A

NM_004006.2(DMD):c.343A>T;(p.I115F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Moving neuromuscular disorders research forward: from novel models to clinical studies.

Disease Models & Mechanisms
van Putten, Maaike M; Hmeljak, Julija J; Aartsma-Rus, Annemieke A; Dowling, James J JJ
Publication Date: 2020-02-25

Variant appearance in text: DMD: I115F
PubMed Link: 32224497
Variant Present in the following documents:
  • Main text
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: DMD: I115F
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page