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The Human Gene Mutation Database (HGMD) represents a comprehensive core collection of data on published germline mutations in nuclear genes underlying human inherited disease.
A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease
Find data on chromosomal rearrangements in human diseases
Query and visualize disease-associated SNPs and genes
Find data on human genetic variants identified by GWAS studies
Ranking candidate genes in exomes or NGS panels with comprehensiv...
Ranking candidate genes in exomes or NGS panels with comprehensive coverage of human Mendelian disease genes