Biallelic loss of function NEK3 mutations deacetylate α-tubulin and downregulate NUP205 that predisp...
Biallelic loss of function NEK3 mutations deacetylate α-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left–right patterning
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Defective left–right (LR) organization involving abnormalities in cilia ultrastructure causes laterality disorders including situs inversus (SI) and heterotaxy (Htx) with the prevalence approximately 1/10,000 births. In this study, we describe two unrelated family trios with abnormal cardiac LR patterning. Through whole-exome sequencing (WES), we i...
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Full title
Biallelic loss of function NEK3 mutations deacetylate α-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left–right patterning
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TN_cdi_doaj_primary_oai_doaj_org_article_d32310d324464982a4c5f545bab86b83
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d32310d324464982a4c5f545bab86b83
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ISSN
2041-4889
E-ISSN
2041-4889
DOI
10.1038/s41419-020-03214-1
