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Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease
Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (γ-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings from a consanguineous Turkish family with dysmorphic features, developmenta...
Tallennettuna:
| Julkaisussa: | iScience |
|---|---|
| Päätekijät: | , , , , , , , , , , , , , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Elsevier
2020
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7797523/ https://ncbi.nlm.nih.gov/pubmed/33458610 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.isci.2020.101948 |
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