putative Polycomb group protein ASXL3 isoform X4 [Homo sapiens]

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Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype. [Am J Med Genet A. 2023]
Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
Schirwani S, Woods E, Koolen DA, Ockeloen CW, Lynch SA, Kavanagh K, Graham JM Jr, Grand K, Pierson TM, Chung JM, et al. Am J Med Genet A. 2023 Jan; 191(1):29-36. Epub 2022 Sep 29.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. [Am J Med Genet A. 2021]
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N, et al. Am J Med Genet A. 2021 Nov; 185(11):3446-3458. Epub 2021 Aug 26.
Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions. [Eur J Med Genet. 2021]
Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.
Yu KP, Luk HM, Fung JLF, Chung BH, Lo IF. Eur J Med Genet. 2021 Jan; 64(1):104107. Epub 2020 Nov 23.

RefSeq mRNA
See reference mRNA sequence for the ASXL3 gene (XM_011526212.2).
RefSeq protein isoforms
See 15 reference sequence protein isoforms for the ASXL3 gene.

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Protein