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
The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.
Mohamadian M et al.
The Journal of Gene Medicine, 2020
Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants.
Henriques SF et al.
Human Mutation, 2019
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.
Keramaris-Vrantsis E et al.
Muscle & Nerve, 2007
Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.
Martin PT
Nature Clinical Practice. Neurology, 2006
Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.
Louhichi N et al.
Archives De L'institut Pasteur De Tunis, 2006
The dystroglycanopathies: the new disorders of O-linked glycosylation.
Martin PT
Seminars in Pediatric Neurology, 2005
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
Louhichi N et al.
Neurogenetics, 2004
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