small nuclear ribonucleoprotein E isoform 2 [Homo sapiens]

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Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia. [Am J Med Genet A. 2023]
Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.
Amudhavalli SM, Paolillo V, Lawson C, Patterson M, Kussmann J, Nopper AJ, Lypka M, Saunders C. Am J Med Genet A. 2023 May; 191(5):1425-1429. Epub 2023 Feb 22.
Additional causal SNRPE mutations in hereditary hypotrichosis simplex. [Br J Dermatol. 2021]
Additional causal SNRPE mutations in hereditary hypotrichosis simplex.
Pan C, Humbatova A, Zheng L, Cesarato N, Grimm C, Chen F, Blaumeiser B, Catalán-Lambán A, Patiño-García A, Fischer U, et al. Br J Dermatol. 2021 Aug; 185(2):439-441. Epub 2021 May 25.
Branchpoint selection in the splicing of U12-dependent introns in vitro. [RNA. 2002]
Branchpoint selection in the splicing of U12-dependent introns in vitro.
McConnell TS, Cho SJ, Frilander MJ, Steitz JA. RNA. 2002 May; 8(5):579-86.

RefSeq mRNA
See reference mRNA sequence for the SNRPE gene (NM_001304464.2).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the SNRPE gene.

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GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
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reagents [ExactAntigen/Labome]
reagents
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Protein