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Innovative strategies for annotating the “relationSNP” between variants and molecular phenotypes
Characterizing how variation at the level of individual nucleotides contributes to traits and diseases has been an area of growing interest since the completion of sequencing the first human genome. Our understanding of how a single nucleotide polymorphism (SNP) leads to a pathogenic phenotype on a...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518798/ https://www.ncbi.nlm.nih.gov/pubmed/31114635 http://dx.doi.org/10.1186/s13040-019-0197-9 |