Associated Papers
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.
Martinez-Thompson JM et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
Mori-Yoshimura M et al.
Muscle & Nerve, 2017
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Groen EJ et al.
Brain : a Journal of Neurology, 2007
Calpainopathy-a survey of mutations and polymorphisms.
Richard I et al.
American Journal of Human Genetics, 1999
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