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 novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
Marcos AT et al.
Molecular Genetics & Genomic Medicine, 2020
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