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Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with inte...

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with inte...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_31a36b97f19048e9bb5d981b0a63762d

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

About this item

Full title

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

Publisher

United States: John Wiley & Sons, Inc

Journal title

Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1439-n/a

Language

English

Formats

Publication information

Publisher

United States: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

Background
Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services. Exome sequencing has been successfully applied in a diagnostic setting, but most clinical exome r...

Alternative Titles

Full title

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_31a36b97f19048e9bb5d981b0a63762d

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_31a36b97f19048e9bb5d981b0a63762d

Other Identifiers

ISSN

2324-9269

E-ISSN

2324-9269

DOI

10.1002/mgg3.1439

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