Carrier re-sequencing reveals rare but benign variants in recessive deafness genes
Carrier re-sequencing reveals rare but benign variants in recessive deafness genes
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Author / Creator
He, Longxia , Pang, Xiuhong , Chen, Penghui , Wang, Xiaowen , Yang, Tao and Wu, Hao
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
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 genes by systematic carrier re-sequencing. As a pilo...
Alternative Titles
Full title
Carrier re-sequencing reveals rare but benign variants in recessive deafness genes
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Author / Creator
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5595904
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5595904
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-017-10099-2
