Pub. Date : 2020 Nov 24
PMID : 32873692
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes. | pentanucleotide | replication factor C subunit 1 | Homo sapiens |
| 2 | OBJECTIVE: To determine the clinical significance of an intronic biallelic pentanucleotide repeat expansion in the gene encoding Replication Factor C subunit 1 (RFC1) in patients with late-onset Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS), other ataxias and in healthy controls by comprehensive genetic analyses. | pentanucleotide | replication factor C subunit 1 | Homo sapiens |
| 3 | OBJECTIVE: To determine the clinical significance of an intronic biallelic pentanucleotide repeat expansion in the gene encoding Replication Factor C subunit 1 (RFC1) in patients with late-onset Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS), other ataxias and in healthy controls by comprehensive genetic analyses. | pentanucleotide | replication factor C subunit 1 | Homo sapiens |