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Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

BACKGROUND: The genetic heterogeneity of sensorineural hearing loss is a major hurdle to the efficient discovery of disease-causing genes. We designed a multiphasic analysis of copy number variation (CNV), linkage, and single nucleotide variation (SNV) of whole exome sequencing (WES) data for the ef...

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Detalles Bibliográficos
Autores principales:	Park, Gibeom, Gim, Jungsoo, Kim, Arheum, Han, Kyu-Hee, Kim, Hyo-Sang, Oh, Seung-Ha, Park, Taesung, Park, Woong-Yang, Choi, ByungYoon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3608096/ https://www.ncbi.nlm.nih.gov/pubmed/23506231 http://dx.doi.org/10.1186/1471-2164-14-191

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