Article

<i>TUBB4B</i>variants specifically impact ciliary function, causing a ciliopathic spectrum

2022-10-21

Abstract excerpt

Cilia are small microtubule-based structures found on the surface of most mammalian cells, which have key sensory and sometimes motile functions. Primary ciliary dyskinesia (PCD) is a type of ciliopathy caused by defects in motile cilia. The genetic basis of PCD is only partially understood. Studying a cohort of 11 human patients with PCD, we find that de novo mutations in TUBB4B , a beta tubulin isotype, cause th...

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Literature Corpus work: 459299f7-b968-5ec3-a54b-19fcb10ea03c
DOI: 10.1101/2022.10.19.22280748

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