ubiquitin-protein ligase E3B isoform 1 [Homo sapiens]

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Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population. [Clin Dysmorphol. 2024]
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.
Albakheet A, Almuallami D, Almass R, Qari A, Kenana R, AlQudairy H, Huma R, Binomar H, Wakil SM, Alowain M, et al. Clin Dysmorphol. 2024 Apr 1; 33(2):55-62. Epub 2024 Feb 15.
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum. [Am J Med Genet A. 2020]
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
Zaki MS, Otaify GA, Ismail S, Issa MY, El-Ruby MO, Sadek AA, Ashaat EA, El Saeidi SA, Aglan MS, Temtamy S, et al. Am J Med Genet A. 2020 Dec; 182(12):2857-2866. Epub 2020 Sep 19.
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients. [Am J Med Genet A. 2018]
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
Yilmaz R, Szakszon K, Altmann A, Altunoglu U, Senturk L, McGuire M, Calabrese O, Madan-Khetarpal S, Basel-Vanagaite L, Borck G. Am J Med Genet A. 2018 Jan; 176(1):187-193. Epub 2017 Nov 21.

RefSeq genomic sequence
See the genomic reference sequence for the UBE3B gene (NG_033898.2).
RefSeq mRNA
See reference mRNA sequence for the UBE3B gene (NM_183415.3).
RefSeq protein isoforms
See 39 reference sequence protein isoforms for the UBE3B gene.

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OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
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