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
Fukutin-Related Protein: From Pathology to Treatments.
Ortiz-Cordero C et al.
Trends in Cell Biology, 2021
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.
Xie Z et al.
Orphanet Journal of Rare Diseases, 2019
31747956 (PubMed )
Supplement: 13023_2019_1242_MOESM2_ESM.docx
Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.
Xie Z et al.
Biomed Research International, 2018
Mouse models of human ocular disease for translational research.
Krebs MP et al.
Plos One, 2017
FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.
Fu X et al.
Journal of Human Genetics, 2016
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