Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number var...
Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Several hypotheses have been proposed to explain the phenotypic variability between parent and offspring carrying the same genomic imbalance, including unmasking of a recessive variant by a chromosomal deletion. Here, 19 patients with neurodevelopmental disorders harboring a rare deletion inherited from a healthy parent were investigated by whole-e...
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Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance
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TN_cdi_proquest_journals_2046590893
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2046590893
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-018-0124-4
