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View article: Missense Variants in the Second Transmembrane Domain of <scp>TMEM17</scp> Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies
Missense Variants in the Second Transmembrane Domain of <span>TMEM17</span> Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies Open
Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability. Over 140 proteins localized to primary cilia, which are sensory organelles essential for vertebrate development, are implicated. TMEM1…