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: N39K

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy.

Human Genome Variation

Ishiyama, Akihiko A; Iida, Aritoshi A; Hayashi, Shinichiro S; Komaki, Hirofumi H; Sasaki, Masayuki M; Nonaka, Ikuya I; Noguchi, Satoru S; Nishino, Ichizo I

Publication Date: 2018

Variant appearance in text: DMD: Asn39Lys

PubMed Link: 30083363

Variant Present in the following documents:

• Main text
• 41439_2018_Article_18.pdf

View BVdb publication page