Carrier re-sequencing reveals rare but benign variants in recessive deafness genes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-10099-2.pdf
Reference18 articles.
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2. Mutai, H. et al. Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. Orphanet journal of rare diseases 8, 172, doi: 10.1186/1750-1172-8-172 (2013).
3. Shearer, A. E. et al. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proceedings of the National Academy of Sciences of the United States of America 107, 21104–21109, doi: 10.1073/pnas.1012989107 (2010).
4. Vona, B. et al. Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations. Genetics in medicine: official journal of the American College of Medical Genetics 16, 945–953, doi: 10.1038/gim.2014.65 (2014).
5. Yang, T., Wei, X., Chai, Y., Li, L. & Wu, H. Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. Orphanet journal of rare diseases 8, 85, doi: 10.1186/1750-1172-8-85 (2013).
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