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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8445517

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

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Publication information

Publisher

New York: Elsevier Inc

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Scope and Contents

Contents

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.
We retrospectively investigated the CNVs’ contribution to AR conditions in cases subjected to...

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Full title

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

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Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8445517

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8445517

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/s41436-020-0864-8

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