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
Calpainopathy-a survey of mutations and polymorphisms.
Richard I et al.
American Journal of Human Genetics, 1999
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
Urtasun M et al.
Brain : a Journal of Neurology, 1998
[Muscular dystrophy due to a mutation in the gene of alpha-sarcoglycan subunit of dystrophin associated protein complex].
Urtasun M et al.
Medicina Clinica, 1998
[Alterations in functional proteins. Calpaine-3 deficiency].
López de Munain A et al.
Revista De Neurologia, 0
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