WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects
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| Auteurs | Karam A, Delvallee C, Estrada-Cuzcano A, Geoffroy V, Lamouche JB, Leuvrey AS, Nourisson E, Tarabeux J, Stoetzel C, Scheidecker S, Porter LF, Genin E, Redon R, Sandron F, Boland A, Deleuze JF, Le May N, Dollfus H and Muller J |
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| Année | 2,023 |
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| Institut | JACOB |
| url DOI | 10.3390/ijms24108729 |