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A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders

Gabriele Di Pasquale et al.
HAL (France) · Papers · License: Open Access
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intellectual-disability
2, Intellectual disability, TUBB2A, 0, Protein modeling, Tubulinopathies, 1, Microcephaly
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Record · ID 308283
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