Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies. - Boutaud L; Li C; Moncler C; Verlin L; Garfa-Traoré M; Bourgon N; Akbari D; Porée J; Serpieri V; Panza M; Haddad L; Nitschké P; et al. (Clinical genetics, 2026)