Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference31 articles.
1. A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family;Y Zhao;PLoS One,2014
2. Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss;O Diaz-Horta;PLoS One,2012
3. Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort;G Bademci;Genet Med,2016
4. Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss;G Bademci;Genet Test Mol Biomarkers,2014
5. Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family;G Park;BMC Genomics,2013
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