Publications:

Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.

Journal Of Nephrology

Vaisitti, Tiziana T; Sorbini, Monica M; Callegari, Martina M; Kalantari, Silvia S; Bracciamà, Valeria V; Arruga, Francesca F; Vanzino, Silvia Bruna SB; Rendine, Sabina S; Togliatto, Gabriele G; Giachino, Daniela D; Pelle, Alessandra A; Cocchi, Enrico E; Benvenuta, Chiara C; Baldovino, Simone S; Rollino, Cristiana C; Fenoglio, Roberta R; Sciascia, Savino S; Tamagnone, Michela M; Vitale, Corrado C; Calabrese, Giovanni G; Biancone, Luigi L; Bussolino, Stefania S; Savoldi, Silvana S; Borzumati, Maurizio M; Cantaluppi, Vincenzo V; Chiappero, Fabio F; Ungari, Silvana S; Peruzzi, Licia L; Roccatello, Dario D; Amoroso, Antonio A; Deaglio, Silvia S

Publication Date: 2021-10

Variant appearance in text: PKD1: 8990G>T; Ser2997Ile

PubMed Link: 33226606

Variant Present in the following documents:

• 40620_2020_Article_898.pdf

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