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Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?

Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9d80058bd6de4772ad70e02928f455be

Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?

About this item

Full title

Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?

Publisher

England: BioMed Central Ltd

Journal title

Molecular brain, 2021-01, Vol.14 (1), p.18-18, Article 18

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Writer's cramp (WC) is a task-specific focal dystonia that occurs selectively in the hand and arm during writing. Previous studies have shown a role for genetics in the pathology of task-specific focal dystonia. However, to date, no causal gene has been reported for task-specific focal dystonia, including WC. In this study, we investigated the gene...

Alternative Titles

Full title

Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_9d80058bd6de4772ad70e02928f455be

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9d80058bd6de4772ad70e02928f455be

Other Identifiers

ISSN

1756-6606

E-ISSN

1756-6606

DOI

10.1186/s13041-021-00736-3

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