TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

Authors Bocquet Béatrice, Borday Caroline, Erkilic Nejla, Mamaeva Daria, Donval Alicia, Masson Christel, Parain Karine, Kaminska Karolina, Quinodoz Mathieu, Perea-Romero Irene, Garcia-Garcia Gema, Jimenez-Medina Carla, Boukhaddaoui Hassan, Coget Arthur, Leboucq Nicolas, Calzetti Giacomo, Gandolfi Stefano, Percesepe Antonio, Barili Valeria, Uliana Vera, Delsante Marco, Bozzetti Francesca, Scholl Hendrik P.N., Corton Marta, Ayuso Carmen, Millan Jose M., Rivolta Carlo, Meunier Isabelle, Perron Muriel, Kalatzis Vasiliki
Journal JCI Insight
Publication Date 2023-11-08
DOI 10.1172/jci.insight.169426

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