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Article

Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.

Cerebellum (London, England) - 1 Dec 2013

Subramony S H, Advincula Joel, Perlman Susan, Rosales Raymond L, Lee Lillian V, Ashizawa Tetsuo, Waters Michael F

Abstract excerpt

The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cer...

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PMID: 23912307
DOI: 10.1007/s12311-013-0507-6
PMCID: PMC3824261

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23912307-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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