Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference21 articles.
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3. Phenotypic expansion of OTUD6B-related syndrome;Alkuraya;Am. J. Med. Genet. A.,2020
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5. Corpus callosum agenesis: an insight into the etiology and spectrum of symptoms;Hofman;Brain Sci.,2020
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1. Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment;Journal of Clinical Immunology;2024-04-05
2. Biallelic OTUD6B variants associated with a Kabuki syndrome‐like disorder in three siblings: A clinical report and literature review;American Journal of Medical Genetics Part A;2024-02-22
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