E3 ubiquitin-protein ligase RNF13 isoform 3 [Homo sapiens]

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Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. [Am J Med Genet A. 2023]
Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive.
Taylor A, Kashyape PS, Jain R, El Naofal M, Tayoun AA. Am J Med Genet A. 2023 Nov; 191(11):2723-2727. Epub 2023 Sep 5.
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. [Am J Hum Genet. 2019]
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
Edvardson S, Nicolae CM, Noh GJ, Burton JE, Punzi G, Shaag A, Bischetsrieder J, De Grassi A, Pierri CL, Elpeleg O, et al. Am J Hum Genet. 2019 Jan 3; 104(1):179-185. Epub 2018 Dec 27.
RNF13: a novel RING-type ubiquitin ligase over-expressed in pancreatic cancer. [Cell Res. 2009]
RNF13: a novel RING-type ubiquitin ligase over-expressed in pancreatic cancer.
Zhang Q, Meng Y, Zhang L, Chen J, Zhu D. Cell Res. 2009 Mar; 19(3):348-57.

RefSeq mRNA
See reference mRNA sequence for the RNF13 gene (NM_001378289.1).
RefSeq protein isoforms
See 24 reference sequence protein isoforms for the RNF13 gene.

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Protein