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Carrier re-sequencing reveals rare but benign variants in recessive deafness genes
For recessive Mendelian disorders, determining the pathogenicity of rare, non-synonymous variants in known causative genes can be challenging without expanded pedigrees and/or functional analysis. In this study, we proposed to establish a database of rare but benign variants in recessive deafness ge...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5595904/ https://www.ncbi.nlm.nih.gov/pubmed/28900111 http://dx.doi.org/10.1038/s41598-017-10099-2 |