RCC1 and BTB domain-containing protein 1 isoform c [Homo sapiens]

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Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. [Ophthalmic Genet. 2022]
Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.
Catomeris AJ, Ballios BG, Sangermano R, Wagner NE, Comander JI, Pierce EA, Place EM, Bujakowska KM, Huckfeldt RM. Ophthalmic Genet. 2022 Jun; 43(3):332-339. Epub 2022 Jan 20.
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy. [Ophthalmic Genet. 2021]
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.
Huang Z, Zhang D, Thompson JA, Jamuar SS, Roshandel D, Jennings L, Mellough C, Charng J, Chen SC, McLaren TL, et al. Ophthalmic Genet. 2021 Jun; 42(3):266-275. Epub 2021 Feb 24.
Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR. [Curr Eye Res. 2021]
Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR.
Yang J, Xiao X, Sun W, Li S, Jia X, Zhang Q. Curr Eye Res. 2021 Jun; 46(6):839-844. Epub 2020 Nov 18.

RefSeq genomic sequence
See the genomic reference sequence for the RCBTB1 gene (NG_046892.1).
RefSeq mRNA
See reference mRNA sequence for the RCBTB1 gene (NM_001352505.2).
RefSeq protein isoforms
See 18 reference sequence protein isoforms for the RCBTB1 gene.

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Protein