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Article

Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations.

Human mutation - 1 Sept 2012

Martindale Joanne E, Seneca Sara, Wieczorek Stefan, Sequeiros Jorge

Abstract excerpt

Locus-specific databases are an important source of information for diagnostic laboratories and a valued means of improving quality of genetic testing. Although increasingly frequent, databases for oligonucleotide repeat expansions are still scarce, due to factors that make them different and the building of databases much more difficult. Definition of what constitutes "the repeat" to measure is not a simple...

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PMID: 22753119
DOI: 10.1002/humu.22156

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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