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Article

Homozygous THAP1 pathogenic variant causes early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction.

American journal of medical genetics. Part A - 1 Jan 2023

Bird Miranda F, Myers Kenneth A

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Identifiers

PMID: 36205328
DOI: 10.1002/ajmg.a.62985

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Homozygous THAP1 pathogenic variant causes early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction.PMID 36205328Read ↗

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Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystoniaSemantic proximity Read ↗

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