De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay,...
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features
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England: BMJ Publishing Group LTD
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Language
English
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Publisher
England: BMJ Publishing Group LTD
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BackgroundUbiquitination has a central role in numerous biological processes, including cell development, stress responses and ageing. Perturbed ubiquitination has been implicated in human diseases ranging from cancer to neurodegenerative diseases. SIAH1 encodes a RING-type E3 ubiquitin ligase involved in protein ubiquitination. Among numerous othe...
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De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features
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TN_cdi_proquest_miscellaneous_2405304291
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2405304291
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2019-106335
