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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Mara Cavallin

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Case report Open access Aug 2026

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.

The father-to-daughter transmission of a novel constitutional TUBB variant, alongside literature review of constitutional and mosaic tubulinopathies, suggest that pathogenic germline TUBB variants can occasionally be inherited.

E. Cellini, D. Mei, Mara Cavallin et al. · 0 citations

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