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Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies

Szabó, Tamás and Pethő-Orosz, Petronella Éva and Balogh, Eszter and Jávorszky, Eszter and Máttyus, István and Bereczki, Csaba and Maróti, Zoltán and Kalmár, Tibor and Szabó, Attila and Reusz, György and Várkonyi, Ildikó and Orosz, Orsolya and Madar, László and Balla, György and Kappelmayer, János and Tory, Kálmán and Balogh, István (2018) Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. PEDIATRIC NEPHROLOGY, 33 (10). pp. 1713-1721. ISSN 0931-041X

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Item Type: Article
Uncontrolled Keywords: CNV; duplication; polycystic kidney; phenocopy; Second locus mutation;
Subjects: R Medicine / orvostudomány > R1 Medicine (General) / orvostudomány általában
SWORD Depositor: MTMT SWORD
Depositing User: MTMT SWORD
Date Deposited: 21 May 2020 12:49
Last Modified: 21 May 2020 12:49
URI: http://real.mtak.hu/id/eprint/108951

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