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 universal gene correction approach for FKRP-associated dystroglycanopathies to enable autologous cell therapy.
Dhoke NR et al.
Cell Reports, 2021
NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes.
Ortiz-Cordero C et al.
Elife, 2021
Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.
Kava M et al.
Pediatric Neurology, 2013
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