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Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.

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Title: Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
Authors: Saglia, Claudia1,2 (AUTHOR), Bracciamà, Valeria1,2 (AUTHOR), Trotta, Luca3 (AUTHOR), Mioli, Fiorenza1,2 (AUTHOR), Faini, Angelo Corso1,2 (AUTHOR), Brach Del Prever, Giulia Margherita1,2 (AUTHOR), Kalantari, Silvia1,2 (AUTHOR), Luca, Maria1,2 (AUTHOR), Romeo, Carmelo Maria1,2 (AUTHOR), Scolari, Caterina1,2 (AUTHOR), Peruzzi, Licia4 (AUTHOR), Calvo, Pier Luigi5 (AUTHOR), Mussa, Alessandro6,7 (AUTHOR), Fenoglio, Roberta8,9 (AUTHOR), Roccatello, Dario8,9 (AUTHOR), Alberti, Claudio3 (AUTHOR), Carli, Diana1,2 (AUTHOR), Amoroso, Antonio1,2 (AUTHOR), Deaglio, Silvia1,2 (AUTHOR), Vaisitti, Tiziana1,2 (AUTHOR) tiziana.vaisitti@unito.it
Source: BMC Medical Genomics. 11/27/2023, Vol. 16 Issue 1, p1-13. 13p.
Database: Academic Search Ultimate
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Description
ISSN:17558794
DOI:10.1186/s12920-023-01747-w