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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
- Source :
- Genetics in Medicine; October 2020, Vol. 22 Issue: 10 p1633-1641, 9p
- Publication Year :
- 2020
-
Abstract
- Improved resolution of molecular diagnostic technologies enabled detection of smaller sized exonic level copy-number variants (CNVs). The contribution of CNVs to autosomal recessive (AR) conditions may be better recognized using a large clinical cohort.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 22
- Issue :
- 10
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs63385509
- Full Text :
- https://doi.org/10.1038/s41436-020-0864-8