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: R82P

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Henderson, Davin M DM; Lee, Ann A; Ervasti, James M JM

Publication Date: 2010-05-25

Variant appearance in text: DMD: R82P

PubMed Link: 20457930

Variant Present in the following documents:

• Main text

View BVdb publication page