Human replication factor C large subunit mRNA, complete cds

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Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease. [J Neurol. 2024]
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.
Schaub A, Erdmann H, Scholz V, Timmer M, Cordts I, Günther R, Reilich P, Abicht A, Schöberl F. J Neurol. 2024 Sep; 271(9):5804-5812. Epub 2024 Jun 25.
K48- and K63-linked ubiquitin chain interactome reveals branch- and length-specific ubiquitin interactors. [Life Sci Alliance. 2024]
K48- and K63-linked ubiquitin chain interactome reveals branch- and length-specific ubiquitin interactors.
Waltho A, Popp O, Lenz C, Pluska L, Lambert M, Dötsch V, Mertins P, Sommer T. Life Sci Alliance. 2024 Aug; 7(8). Epub 2024 May 21.
[Late-Onset Cerebellar Ataxia with Neuropathy: Uncovering the Role of RFC1 Gene Mutations]. [Rev Med Chil. 2023]
[Late-Onset Cerebellar Ataxia with Neuropathy: Uncovering the Role of RFC1 Gene Mutations].
Miranda C M, Diaz M, Hughes G R, Barreto Y M, Nakousi C N, Campero S M. Rev Med Chil. 2023 Apr; 151(4):524-529.

RefSeq alternative splicing
See 9 reference mRNA sequence splice variants for the RFC1 gene.

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Nucleotide