Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss

BACKGROUND: The genetic diversity of loci and mutations underlying hereditary hearing loss is an active area of investigation. To identify loci associated with predominantly non-syndromic sensorineural hearing loss, we performed exome sequencing of families and of single probands, as well as copy nu...

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Detalles Bibliográficos
Autores principales: Haraksingh, Rajini R, Jahanbani, Fereshteh, Rodriguez-Paris, Juan, Gelernter, Joel, Nadeau, Kari C, Oghalai, John S, Schrijver, Iris, Snyder, Michael P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367882/
https://www.ncbi.nlm.nih.gov/pubmed/25528277
http://dx.doi.org/10.1186/1471-2164-15-1155

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367882/
https://www.ncbi.nlm.nih.gov/pubmed/25528277
http://dx.doi.org/10.1186/1471-2164-15-1155

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