KIAA1019 protein [Homo sapiens]

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Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient. [Mol Genet Genomic Med. 2023]
Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.
Tang S, You J, Liu L, Ouyang H, Jiang N, Duan J, Li C, Luo Y, Zhang W, Zhan M, et al. Mol Genet Genomic Med. 2023 Aug; 11(8):e2188. Epub 2023 Jul 24.
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. [Eur J Hum Genet. 2022]
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.
Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, et al. Eur J Hum Genet. 2022 Mar; 30(3):271-281. Epub 2021 Sep 15.
The SON RNA splicing factor is required for intracellular trafficking structures that promote centriole assembly and ciliogenesis. [Mol Biol Cell. 2021]
The SON RNA splicing factor is required for intracellular trafficking structures that promote centriole assembly and ciliogenesis.
Stemm-Wolf AJ, O'Toole ET, Sheridan RM, Morgan JT, Pearson CG. Mol Biol Cell. 2021 Oct 1; 32(20):ar4. Epub 2021 Aug 18.

RefSeq genomic sequence
See the genomic reference sequence for the SON gene (NG_052981.2).
RefSeq protein isoforms
See 6 reference sequence protein isoforms for the SON gene.

Nucleotide
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RecName: Full=BTB/POZ domain-containing protein 8; AltName: Full=AP2-interacting...
RecName: Full=BTB/POZ domain-containing protein 8; AltName: Full=AP2-interacting clathrin-endocytosis; Short=APache
gi|2316769056|sp|Q5XKL5.3|BTBD8_HUM

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