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
Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.
Lin F et al.
Orphanet Journal of Rare Diseases, 2023
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.
Winckler PB et al.
Clinical Genetics, 2019
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
Stehlíková K et al.
Clinical Genetics, 2017
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