Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
基于表型相似性的未解决罕见病变异优先级排序方法：初步方法学报告
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-023-01486-7
Lagorce, David; Lebreton, Emeline; Matalonga, Leslie; Hongnat, Oscar; Chahdil, Maroua; Piscia, Davide; Paramonov, Ida; Ellwanger, Kornelia; Köhler, Sebastian; Robinson, Peter; Graessner, Holm; Beltran, Sergi; Lucano, Caterina; Hanauer, Marc; Rath, Ana
