OTU domain containing 7, isoform CRA_a [Homo sapiens]

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Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. [Clin Genet. 2020]
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, Boughalem A, Auvin S, Duffourd Y, Klafack S, Zieba BA, Mahmoudi S, et al. Clin Genet. 2020 Apr; 97(4):567-575. Epub 2020 Feb 11.
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures. [Am J Med Genet A. 2021]
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.
Suzuki H, Inaba M, Yamada M, Uehara T, Takenouchi T, Mizuno S, Kosaki K, Doi M. Am J Med Genet A. 2021 Apr; 185(4):1182-1186. Epub 2020 Dec 31.
CircRNA_OTUD7A upregulates FOXP1 expression to facilitate the progression of diffuse large B-cell lymphoma via acting as a sponge of miR-431-5p. [Genes Genomics. 2021]
CircRNA_OTUD7A upregulates FOXP1 expression to facilitate the progression of diffuse large B-cell lymphoma via acting as a sponge of miR-431-5p.
Liu W, Lei L, Liu X, Ye S. Genes Genomics. 2021 Jun; 43(6):653-667. Epub 2021 Apr 8.

RefSeq protein isoforms
See 3 reference sequence protein isoforms for the OTUD7A gene.

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651894[uid] (1)
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