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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
New horizons for congenital myasthenic syndromes.
Engel AG et al.
Annals of the New York Academy of Sciences, 2012
Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
Shen XM et al.
Human Mutation, 2011
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