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Article

Functional Investigation of TUBB4A Variants Associated with Different Clinical Phenotypes.

Molecular neurobiology - 1 Aug 2022

Xiao Hui, He Hailan, Wu Tenghui, Ni Xiaoyuan, Liu Fangyun, Yin Fei, Peng Jing

Abstract excerpt

Dominant TUBB4A variants result in different phenotypes, including hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC), dystonia type 4 (DYT4), and isolated hypomyelination. Here, we report four new patients with a novel TUBB4A variant (p.K324T) and three new patients with previously reported variants (p.Q292K, p.V255I, p.E410K). The individual carrying the novel p.K324T variant exhibits...

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Identifiers

PMID: 35668344
DOI: 10.1007/s12035-022-02900-9

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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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