poly(U)-binding-splicing factor PUF60 isoform d [Homo sapiens]

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Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders. [Int J Mol Sci. 2024]
Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.
Baum E, Huang W, Vincent-Delorme C, Brunelle P, Antebi A, Dafsari HS. Int J Mol Sci. 2024 Feb 8; 25(4). Epub 2024 Feb 8.
PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants. [Am J Med Genet A. 2023]
PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.
Grimes H, Ansari M, Ashraf T, Cueto-González AM, Calder A, Day M, Fernandez Alvarez P, Foster A, Lahiri N, Repetto GM, et al. Am J Med Genet A. 2023 Oct; 191(10):2610-2622. Epub 2023 Jun 11.
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. [Am J Med Genet A. 2022]
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Fennell AP, Baxter AE, Berkovic SF, Ellaway CJ, Forwood C, Hildebrand MS, Kumble S, McKeown C, Mowat D, Poke G, et al. Am J Med Genet A. 2022 Dec; 188(12):3432-3447. Epub 2022 Aug 17.

RefSeq genomic sequence
See the genomic reference sequence for the PUF60 gene (NG_033879.1).
RefSeq mRNA
See reference mRNA sequence for the PUF60 gene (NM_001271096.2).

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NP_001258025
Domain Mapping of Disease Mutations
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Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
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reagents [ExactAntigen/Labome]
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