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'A variant of uncertain significance' and the proliferation of human disease gene databases
The rapid accumulation of mutation data has led to the creation of nearly 300 locus-specific mutation databases. These sites may contain a few dozen to almost 20,000 mutations for a given gene. Many of the mutations are uncharacterised and have no known effects on the gene product, the 'variant...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2005
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525115/ https://www.ncbi.nlm.nih.gov/pubmed/15814069 http://dx.doi.org/10.1186/1479-7364-2-1-70 |