Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pa...
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
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Publisher
London: Nature Publishing Group UK
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Language
English
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London: Nature Publishing Group UK
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Contents
While de novo variants (DNV) are overall at low risk of recurrence in subsequent pregnancies, a subset is at high risk due to parental mosaicism. Accurately identifying cases of parental mosaicism is therefore important for genetic counseling in clinical care. Some studies have investigated the rate of parental mosaics, but most were either limited...
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Full title
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
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TN_cdi_doaj_primary_oai_doaj_org_article_6d5713aaaa4444979daf4c8e8565c653
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6d5713aaaa4444979daf4c8e8565c653
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-024-53358-9
