Toward a Human Variome Project
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference11 articles.
1. Recommendations for a nomenclature system for human gene mutations
2. Time for a Unified System of Mutation Description and Reporting: A Review of Locus-Specific Mutation Databases
3. Quality control in the discovery, reporting, and recording of genomic variation
4. The Human Genome Project and genome variation
5. The load of genetic and partially genetic disorders in man I. Congenital anomalies: estimates of detriment in terms of years of life lost and years of impaired life
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1. RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases;Human Mutation;2010-01
2. General mutation databases: analysis and review;Journal of Medical Genetics;2007-09-24
3. Recommendations for locus-specific databases and their curation;Human Mutation;2007
4. Spectrum of disease-causing mutations in protein secondary structures;BMC Structural Biology;2007
5. FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide;Nucleic Acids Research;2006-11-28
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