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Author/Creator Del Vecchio Blanco, Francesca

2. MO045THE APPLICATION OF A NGS KIDNEY PANEL REVEALED KEY CHALLENGES OF PKD1-2 ANALYSIS: INTERPRETATION OF MISSENSE VARIANTS, SIGNIFICANCE OF VARIANTS IN DUPLICATED REGIONS AND HIGH ALLELIC HETEROGENEITY. (29th May 2021)

Authors:
Blasio, Giancarlo; Zacchia, Miriam; Del Vecchio Blanco, Francesca; Capolongo, Giovanna; Perna, Alessandra; Nigro, Vincenzo; Capasso, Giovambattista
Journal:
Nephrology dialysis transplantation
Issue:
Volume 36(2021)Supplement 1
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Record Type:
Journal Article
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3. The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. (5th July 2016)

Authors:
Savarese, Marco; Di Fruscio, Giuseppina; Torella, Annalaura; Fiorillo, Chiara; Magri, Francesca; Fanin, Marina; Ruggiero, Lucia; Ricci, Giulia; Astrea, Guja; Passamano, Luigia; Ruggieri, Alessandra; Ronchi, Dario; Tasca, Giorgio; D'Amico, Adele; Janssens, Sandra; Farina, Olimpia; Mutarelli, Margh...
Journal:
Neurology
Issue:
Volume 87:Number 1(2016)
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Record Type:
Journal Article
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