For the Mutation Detection 2003 Special Issue
Special Article
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The challenge of documenting mutation across the genome: The human genome variation society approach†
Article first published online: 19 MAR 2004
DOI: 10.1002/humu.20038
Copyright © 2004 Wiley-Liss, Inc.
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How to Cite
Horaitis, O. and Cotton, R. G. H. (2004), The challenge of documenting mutation across the genome: The human genome variation society approach. Hum. Mutat., 23: 447–452. doi: 10.1002/humu.20038
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Publication History
- Issue published online: 19 MAR 2004
- Article first published online: 19 MAR 2004
- Abstract
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- 3, , , UASIS: Universal Automatic SNP Identification System, BMC Genomics, 2011, 12, Suppl 3, S9
- 4
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- 8, , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Analysis of published PKD1 gene sequence variants, Nature Genetics, 2007, 39, 4, 427
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- 14, National and ethnic mutation databases: recording populations' genography, Human Mutation, 2006, 27, 9Direct Link:
- 15, , Automated splicing mutation analysis by information theory, Human Mutation, 2005, 25, 4Direct Link:
- 16, , , , , HAEdb: A novel interactive, locus-specific mutation database for the C1 inhibitor gene, Human Mutation, 2005, 25, 1Direct Link:
- 17, , , , Hellenic National Mutation Database: a prototype database for mutations leading to inherited disorders in the Hellenic population, Human Mutation, 2005, 25, 4Direct Link:
- 18, , , LOVD: Easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach, Human Mutation, 2005, 26, 2Direct Link:
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- 20, , , , , , UMD (Universal Mutation Database): 2005 update, Human Mutation, 2005, 26, 3Direct Link:
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- 22
- 23References,Direct Link:

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