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
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
Park HJ et al.
Clinical Genetics, 2017
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
Stevens E et al.
Plos One, 2013
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Quijano-Roy S et al.
Brain & Development, 2006
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
Brockington M et al.
American Journal of Human Genetics, 2001
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