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
Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement.
Fu J et al.
Clinical Genetics, 2019
Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.
van Tol W et al.
Journal of Inherited Metabolic Disease, 2019
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
Svahn J et al.
Neuromuscular Disorders : Nmd, 2019
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