Combined examination of sequence and copy number variations in human deafness genes improves diagnos...
Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness
About this item
Full title
Author / Creator
Ji, Haiting , Lu, Jingqiao , Wang, Jianjun , Li, Huawei and Lin, Xi
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Copy number variations (CNVs) are the major type of structural variation in the human genome, and are more common than DNA sequence variations in populations. CNVs are important factors for human genetic and phenotypic diversity. Many CNVs have been associated with either resistance to diseases or identified as the cause of diseases. Currently litt...
Alternative Titles
Full title
Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4194081
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4194081
Other Identifiers
ISSN
1472-6815
E-ISSN
1472-6815
DOI
10.1186/1472-6815-14-9
