In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease

TUBB4A-associated disorder is a rare condition affecting the central nervous system. It displays a wide phenotypic spectrum, ranging from isolated late-onset torsion dystonia to a severe early-onset disease with developmental delay, neurological deficits, and atrophy of the basal ganglia and cerebel...

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Detalles Bibliográficos
Autores principales: Fellner, Avi, Goldberg, Yael, Lev, Dorit, Basel-Salmon, Lina, Shor, Oded, Benninger, Felix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8741991/
https://www.ncbi.nlm.nih.gov/pubmed/34997144
http://dx.doi.org/10.1038/s41598-021-04337-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8741991/
https://www.ncbi.nlm.nih.gov/pubmed/34997144
http://dx.doi.org/10.1038/s41598-021-04337-x

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