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
Variants in BRWD3 associated with X-linked partial epilepsy without intellectual disability.
Tian MQ et al.
Cns Neuroscience & Therapeutics, 2023
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC et al.
Nature Genetics, 2020
32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_1
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Hino-Fukuyo N et al.
Human Genetics, 2015
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