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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 aberrant 3' and 5' splice sites
Find data on human disease methylation
Find data on human genetic variants identified by GWAS studies
Allelic variations of genes encoding blood group systems antigens