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Article

Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.

Journal of human genetics - 1 Mar 2026

Hwang Soojin, Bae Hyunwoo, Kim Dohyung, Yum Mi-Sun, Kim Min-Jee, Yoon Ji-Hee, Kim Ja Hye, Seo Go Hun, Kim Gu-Hwan, Do Hyosang, Kim Soyoung, Jin Hee Kyung, Bae Jae-Sung, Lee Beom Hee

Abstract excerpt

Tubulin proteins form microtubules, which are critical for neuronal cell migration. In humans, there are at least 27 tubulin genes. Pathogenic variants in these genes cause tubulinopathies, which are characterized by diverse neurodevelopmental symptoms and brain malformations. This study analyzed the genetic variants and clinical characteristics of 12 patients (3 males, 9 females) with confirmed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41152456
DOI: 10.1038/s10038-025-01421-2

Genes

TUBB2A
TUBB3
TUBB2B
TUBB4A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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