WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects
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R. Redon | A. Boland | J. Deleuze | H. Dollfus | J. Tarabeux | A. Estrada-Cuzcano | C. Stoetzel | Véronique Geoffroy | J. Muller | Florian Sandron | S. Scheidecker | L. Porter | Clarisse Delvallée | E. Genin | Elsa Nourisson | N. Le May | Anne-Sophie Leuvrey | Adella Karam | Jean-Baptiste Lamouche | Sophie Scheidecker