Homo sapiens pseudouridylate synthase 3, mRNA (cDNA clone MGC:5252 IMA - Nucleotide

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Destabilization of mutated human PUS3 protein causes intellectual disability. [Hum Mutat. 2022]
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY, Smigiel R, Kuzniewska B, Chmielewska JJ, Kosińska J, Biela M, Biela A, Kościelniak A, Dobosz D, Laczmanska I, et al. Hum Mutat. 2022 Dec; 43(12):2063-2078. Epub 2022 Oct 2.
Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB. [EMBO J. 2022]
Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB.
Li FL, Wu Z, Gao YQ, Bowling FZ, Franklin JM, Hu C, Suhandynata RT, Frohman MA, Airola MV, Zhou H, et al. EMBO J. 2022 Sep 1; 41(17):e110698. Epub 2022 Jul 17.
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders. [Clin Genet. 2021]
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Nøstvik M, Kateta SM, Schönewolf-Greulich B, Afenjar A, Barth M, Boschann F, Doummar D, Haack TB, Keren B, Livshits LA, et al. Clin Genet. 2021 Nov; 100(5):628-633. Epub 2021 Aug 31.

RefSeq alternative splicing
See 3 reference mRNA sequence splice variants for the PUS3 gene.

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Nucleotide