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Paper Details

Identifying Mendelian disease genes with the variant effect scoring tool.
BMC Genomics
324
2013
2253 genes, 2313 genes, DHODH, Freeman Sheldon syndrome, Human, Human Gene Mutation, MYH3, MYH3), Mendelian disease, Mendelian disease genes, Mendelian disorders, SIFT4, VEST gene, dihydroorotate, dihydroorotate dehydrogenase, disease genes, human, missense, missense variants, myosin-3, rare protein coding variants
Author NameAffiliation
Hannah CarterDepartment of Biomedical Engineering and Institute for Computational Medicine, Johns Hopkins University
Hannah CarterDepartment of Biomedical Engineering and Institute for Computational Medicine, Johns Hopkins University
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