Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome

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Authors: Daan H.H.M. Viering, Marguerite Hureaux, Kornelia Neveling, Femke Latta, Michael Kwint, Anne Blanchard, Martin Konrad, Ren J.M. Bindels, Karl-Peter Schlingmann, Rosa Vargas-Poussou, Jeroen H.F. de Baaij

Journal title: Journal of the American Society of Nephrology

Journal number: 34

Journal publisher: Ovid Technologies (Wolters Kluwer Health)

Published year: 2023

DOI identifier: 10.1681/ASN.2022050627

ISSN: 1046-6673