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TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes
The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell types, allowing them to respond to extracellular signals. T...
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| Vydáno v: | HGG Adv |
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| Hlavní autoři: | , , , , , , , , , , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8009330/ https://ncbi.nlm.nih.gov/pubmed/33791682 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.xhgg.2020.100016 |
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