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: T161P

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: 481A>C; Thr161Pro

PubMed Link: 28859693

Variant Present in the following documents:

• Main text
• 13023_2017_Article_703.pdf

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