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PubMed (OMIM) for id: 9690
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Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Genet Med. 2023 Feb;25(2):100323. doi: 10.1016/j.gim.2022.10.006. Epub 2022 Nov 19.
Genet Med. 2023.
PMID: 36401616
Free article.
A HECT domain E3 enzyme assembles novel polyubiquitin chains.
You J, Pickart CM.
You J, et al.
J Biol Chem. 2001 Jun 8;276(23):19871-8. doi: 10.1074/jbc.M100034200. Epub 2001 Mar 14.
J Biol Chem. 2001.
PMID: 11278995
Free article.
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Characterization of human hect domain family members and their interaction with UbcH5 and UbcH7.
Schwarz SE, Rosa JL, Scheffner M.
Schwarz SE, et al.
J Biol Chem. 1998 May 15;273(20):12148-54. doi: 10.1074/jbc.273.20.12148.
J Biol Chem. 1998.
PMID: 9575161
Free article.
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Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1.
Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S.
Nomura N, et al.
DNA Res. 1994;1(1):27-35. doi: 10.1093/dnares/1.1.27.
DNA Res. 1994.
PMID: 7584026
Free article.
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