Article
Human Gene Mutation Database (HGMD): 2003 update.
Human mutation - 1 Jun 2003
Stenson Peter D, Ball Edward V, Mort Matthew, Phillips Andrew D, Shiel Jacqueline A, Thomas Nick S T, Abeysinghe Shaun, Krawczak Michael, Cooper David N
Abstract excerpt
The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection of data on germ-line mutations in nuclear genes underlying or associated with human inherited disease (www.hgmd.org). Data catalogued includes: single base-pair substitutions in coding, regulatory and splicing-relevant regions; micro-deletions and micro-insertions; indels; triplet repeat expansions as well as gross deletions;...
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