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Phenotypic Similarity-Based Approach for Variant Prioritization for Unsolved Rare Disease: a Preliminary Methodological Report.

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

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

引用 2|浏览62
关键词
Exome Sequencing,Phenotype Analysis,Pathogenicity Prediction
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