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The First Report of a HomozygousTUBG1Splice Variant: Expanding the Genetic Spectrum of Tubulinopathies and Confirming the Dominant-Negative Effect

2025-03-13

Abstract excerpt

Tubulinopathies, or tubulin-related cortical dysgenesis, are a group of overlapping brain disorders caused by pathogenic mutations in tubulin-encoding genes. These disorders include microcephaly, polymicrogyria, and lissencephaly/pachygyria, which are commonly associated with severe seizures and intellectual incapacity. TUBG1 , which encodes tubulin-gamma-1, is critical for microtubule nucleation at the microtubul...

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Literature Corpus work: 85f588f3-78d9-5fb8-b58e-acaa950f3b82
DOI: 10.1101/2025.03.11.25323037

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The First Report of a Homozygous<i>TUBG1</i>Splice Variant: Expanding the Genetic Spectrum of Tubulinopathies and Confirming the Dominant-Negative Effect

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