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
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Nagy S et al.
Clinical Genetics, 2022
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Song D et al.
Clinical Genetics, 2021
Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement.
Fu J et al.
Clinical Genetics, 2019
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details