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Functional and Structural Consequence of Rare Exonic Single Nucleotide Polymorphisms: One Story, Two Tales
Genetic variation arising from single nucleotide polymorphisms (SNPs) is ubiquitously found among human populations. While disease-causing variants are known in some cases, identifying functional or causative variants for most human diseases remains a challenging task. Rare SNPs, rather than common...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4684694/ https://www.ncbi.nlm.nih.gov/pubmed/26454016 http://dx.doi.org/10.1093/gbe/evv191 |