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Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants.

Clinical genetics - 1 Nov 2023

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

Abstract excerpt

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 (Na+/glucose cotransporter family member 2), as the gene responsible for FRG. The aim of this work was to validate the variants identified in our extended FRG cohort of published, as well more recent unreported...

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PMID: 37349938
DOI: 10.1111/cge.14395

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