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
Molecular basis of neurodevelopmental disorders caused by pathogenic variants of PIDD.
Ha HJ et al.
Biochemical and Biophysical Research Communications, 2023
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
RAIDD mutations underlie the pathogenesis of thin lissencephaly (TLIS).
Ha HJ et al.
Plos One, 2018
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
Di Donato N et al.
American Journal of Human Genetics, 2016
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