Associated Papers
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
McArdle Disease: New Insights into Its Underlying Molecular Mechanisms.
Llavero F et al.
International Journal of Molecular Sciences, 2019
Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.
Wu Y et al.
Molecular Genetics and Metabolism, 2011
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