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searching for MutationTaster 2 found (6 total)

CHARGE syndrome (1,581 words) [view diff] exact match in snippet view article find links to article

listed in public databases. and predicted to be deleterious by CADD and MutationTaster. Phenotypic variability further complicates diagnosis, with no clear

ANNOVAR (3,454 words) [view diff] exact match in snippet view article find links to article

1000 Genomes Project LRT ClinVar dbSNP MutationTaster CADD avSNP GERP++ DANN dbNSFP ExAC COSMIC SIFT ESP (Exome Sequencing Project) ICGC PolyPhen 2 gnomAD