poly(U)-binding-splicing factor PUF60 isoform g [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_001271099.2).
RefSeq protein isoforms
See 27 reference sequence protein isoforms for the PUF60 gene.

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SNP
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NP_001258028
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Ensembl [Ensembl]
Ensembl
Ensembl [Ensembl]
Ensembl
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OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

AGENCOURT_6593402 NIH_MGC_106 Homo sapiens cDNA clone IMAGE:5484256 5', mRNA seq...
AGENCOURT_6593402 NIH_MGC_106 Homo sapiens cDNA clone IMAGE:5484256 5', mRNA sequence
gi|18806853|gnl|dbEST|11134793|gb|B 26.1|

Nucleotide
Synthetic construct Homo sapiens clone IMAGE:100069179, MGC:199190 myosin VA (he...
Synthetic construct Homo sapiens clone IMAGE:100069179, MGC:199190 myosin VA (heavy chain 12, myoxin) (MYO5A) mRNA, encodes complete protein
gi|225000223|gb|BC172485.1|

Nucleotide

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