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
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G et al.
Journal of Neuromuscular Diseases, 2023
Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants.
Henriques SF et al.
Human Mutation, 2019
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.
Bourteel H et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2009
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
Wahbi K et al.
Neuromuscular Disorders : Nmd, 2008
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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