DMD c.9896A>G ;(p.H3299R)

Variant ID: X-31200933-T-C

NM_004006.2(DMD):c.9896A>G;(p.H3299R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: H3299R
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

Orphanet Journal Of Rare Diseases
Okubo, Mariko M; Goto, Kanako K; Komaki, Hirofumi H; Nakamura, Harumasa H; Mori-Yoshimura, Madoka M; Hayashi, Yukiko K YK; Mitsuhashi, Satomi S; Noguchi, Satoru S; Kimura, En E; Nishino, Ichizo I
Publication Date: 2017-08-31

Variant appearance in text: DMD: 9896A>G; His3299Arg
PubMed Link: 28859693
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_703.pdf
View BVdb publication page