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Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohor...

Barata, Rui; Fila, Marc; Dalla-Vale, Fabienne; Bogarin, Roberto; Nunes, Paula; Ramalho, José; Rueff, Jose; Calado, Joaquim

Funding Information: This work was supported by grant UID/BIM/00009/2016, Portuguese Science and Technology Foundation. Publisher Copyright: © 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.; Familial Renal Glucosuria (FRG) is a co-dominantly inherited trait characterized by orthoglycaemic glucosuria. From 2003 to 2015 we have reported several cohorts validating SLC5A2 (16p11.2), encoding SGLT2 ...

Date: 2023   |   Origin: Repositório Institucional da UNL
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