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Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes

Mendelian DisorderGenetic DisorderMedicineGeneticsBardet Biedl SyndromePathologyMolecular GeneticsDisease Gene IdentificationMolecular MedicineMulti-gene PanelMolecular DiagnosticsBbs10 GenesClinical Genetics