Article

Structural polymorphism of the nucleic acids in pentanucleotide repeats associated with CANVAS

2023-08-18

Abstract excerpt

Short tandem repeats are highly unstable, depending on repeat length, and the expansion of the repeat length in the human genome is responsible for repeat expansion disorders. Pentanucleotide AAGGG and ACAGG repeat expansions in intron 2 of the gene encoding replication factor C subunit 1 ( RFC1 ) cause cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and other phenotypes of late-onset cerebe...

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Literature Corpus work: 23311534-3b9a-5356-9f59-aa708cce19ad
DOI: 10.1101/2023.08.17.553768

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