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
Description of novel variants in consanguineous Pakistani families affected with intellectual disability.
Rasool IG et al.
Genes & Genomics, 2023
Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.
Esapa CT et al.
Frontiers in Molecular Biosciences, 2023
38161385 (PubMed )
Supplement: Table1.DOCX
Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants.
Henriques SF et al.
Human Mutation, 2019
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
Topaloglu H et al.
Neurology, 2003
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