Nov 25, 2020 · The diagnosis of RFC1 CANVAS / spectrum disorder is established in a proband with suggestive findings and biallelic intronic AAGGG pentanucleotide expansions in RFC1 …

Replication factor C is a DNA-dependent ATPase that is required for eukaryotic DNA replication and repair. The protein acts as an activator of DNA polymerases, binds to the 3' end of …

Network Working Group Request for Comment: 1. I. A Summary of the IMP Software. Messages. Links. IMP Transmission and Error Checking. Open Questions on the IMP Software. II. Some …

Dec 25, 2024 · RFC1 (Replication Factor C Subunit 1) is a Protein Coding gene. Diseases associated with RFC1 include Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia …

Aug 29, 2022 · RFC1 encodes the large subunit of replication factor C, a pentameric DNA polymerase accessory protein involved in DNA replication and repair. 1 The RFC complex …

Recently, biallelic intronic AAGGG repeat expansions in the replication factor complex subunit 1 (RFC1) gene were identified as the cause of cerebellar ataxia, neuropathy, vestibular areflexia …

Gene ID: 5981, updated on 8-Feb-2025. This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase …

Jun 22, 2021 · Biallelic RFC1 expansions were identified in 43 patients (34%) with sensory neuropathy and in none with sensory-motor neuropathy. Forty-two per cent of RFC1-positive …

Jan 4, 2025 · This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic …

Oct 31, 2024 · The RFC1 gene encodes the large subunit of replication factor C, a 5-subunit DNA polymerase accessory protein required for the coordinated synthesis of both DNA strands …