Publications:

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Journal Of Nephrology

Zacchia, Miriam M; Blanco, Francesca Del Vecchio FDV; Trepiccione, Francesco F; Blasio, Giancarlo G; Torella, Annalaura A; Melluso, Andrea A; Capolongo, Giovanna G; Pollastro, Rosa Maria RM; Piluso, Giulio G; Di Iorio, Valentina V; Simonelli, Francesca F; Viggiano, Davide D; Perna, Alessandra A; Nigro, Vincenzo V; Capasso, Giovambattista G

Publication Date: 2021-12

Variant appearance in text: PKD1: 11856C>G; R3952R

PubMed Link: 33964006

Variant Present in the following documents:

• Main text

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