Associated Papers
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.
Adams L et al.
Jimd Reports, 2023
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Nogales-Gadea G et al.
Human Mutation, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.
Duno M et al.
Annals of Human Genetics, 2009
Select a paper to view details