Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

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Authors: David Lagorce, Emeline Lebreton, Leslie Matalonga, Oscar Hongnat, Maroua Chahdil, Davide Piscia, Ida Paramonov, Kornelia Ellwanger, Sebastian Köhler, Peter Robinson, Holm Graessner, Sergi Beltran, Caterina Lucano, Marc Hanauer & Ana Rath

Journal title: European journal of Human Genetics

Journal number: 32, 23 November 2023

Journal publisher: Natue Publishing Group

Published year: 2023

Published pages: 182–189

DOI identifier: 10.1038/s41431-023-01486-7

ISSN: 1018-4813