Human Gene Mutation DatabaseβA biomedica
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Michael Krawczak; Edward V. Ball; Iain Fenton; Peter D. Stenson; Shaun Abeysingh
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Article
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2000
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John Wiley and Sons
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English
β 217 KB
Although 20 years have elapsed since the first single basepair substitution underlying an inherited disease in humans was characterised at the DNA level, the initiative has only recently been taken to establish central database resources for pathological genetic variants. Disease-associated gene les