Associated Papers
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.
De Castro M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Nogales-Gadea G et al.
Human Mutation, 2015
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
Burwinkel B et al.
American Journal of Human Genetics, 2005
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