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Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy

Microtubules are cytoskeletal polymers of ⍺/β-tubulin heterodimers essential for a wide range of cellular processes. Pathogenic variations in microtubule-encoding genes (e.g., TUBB4B, which encodes the β-4B tubulin isotype) are responsible for a wide spectrum of cerebral malformations, collectively...

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Detalles Bibliográficos
Autores principales:	McFadden, Jason R., Tolete, Christina Deanne P., Huang, Yan, Macnamara, Ellen, Sept, David, Nesterova, Galina, Gahl, William A., Sackett, Dan L., Malicdan, May Christine V.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2023
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10336574/ https://www.ncbi.nlm.nih.gov/pubmed/37448631 http://dx.doi.org/10.1016/j.ymgmr.2023.100990

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