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Expanding the Clinical and Molecular Spectrum of <i>TUBB2B</i> Through Distinct Variants Identified Across Multiple Families

2025-12-29

Abstract excerpt

TUBB2B encodes a β-tubulin isotype essential for neuronal proliferation, migration, and organization during brain development. Pathogenic heterozygous variants in TUBB2B have been associated with a range of neurodevelopmental disorders, with phenotypes including polymicrogyria and corpus callosum abnormalities. However, the phenotypic spectrum remains heterogeneous, likely influenced by variant-specific effects o...

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Literature Corpus work
7590c588-4dde-56b6-8c36-0810247cb8e5
DOI
10.64898/2025.12.28.25342917
Open publication

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Expanding the Clinical and Molecular Spectrum of <i>TUBB2B</i> Through Distinct Variants Identified Across Multiple FamiliesDOI 10.64898/2025.12.28.25342917
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