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Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia. (2021)

First Author: Mencacci NE

Attributed to: UK Dementias Platform funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1172/jci140625

PubMed Identifier: 33539324

Publication URI: http://europepmc.org/abstract/MED/33539324

Type: Journal Article/Review

Volume: 131

Parent Publication: The Journal of clinical investigation

Issue: 7

ISSN: 0021-9738