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Congratulations to Lucile Boutaud, Sophie Thomas and colleagues @institutimagine.bsky.social ! #cilia #ciliopathies onlinelibrary.wiley.com/doi/10.1111/...
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome.
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Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies
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