activator 1 140 kDa subunit, partial [Homo sapiens]

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[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.
Structural polymorphism of the nucleic acids in pentanucleotide repeats associated with the neurological disorder CANVAS. [J Biol Chem. 2024]
Structural polymorphism of the nucleic acids in pentanucleotide repeats associated with the neurological disorder CANVAS.
Kudo K, Hori K, Asamitsu S, Maeda K, Aida Y, Hokimoto M, Matsuo K, Yabuki Y, Shioda N. J Biol Chem. 2024 Apr; 300(4):107138. Epub 2024 Mar 5.
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile. [J Neurol. 2024]
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.
Pellerin D, Heindl F, Traschütz A, Rujescu D, Hartmann AM, Brais B, Houlden H, Dufke C, Riess O, Haack T, et al. J Neurol. 2024 May; 271(5):2886-2892. Epub 2024 Feb 21.

RefSeq protein isoforms
See 9 reference sequence protein isoforms for the RFC1 gene.

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Protein