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Additional file 1 of Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies

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Figshare2024-08-18 更新2026-04-08 收录
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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Objectivizing_issues_in_the_diagnosis_of_complex_rare_diseases_lessons_learned_from_testing_existing_diagnosis_support_systems_on_ciliopathies/25902330/1
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Additional file 1: CIL-ORPHA list. List of ciliopathy diseases used for the classification. The list is built based on the Orphanet hierarchy and disease names are encoded using the Orphanet nomenclature.
提供机构:
Lyonnet, Stanislas; Rozet, Jean-Michel; Zaidan, Mohamad; Chen, Xiaoyi; Attié-Bitach, Tania; Garcelon, Nicolas; Faviez, Carole; Faour, Hassan; Cormier-Daire, Valérie; Petzold, Friederike; Douillet, Maxime; Billot, Katy; Burgun, Anita; Saunier, Sophie
创建时间:
2024-05-25
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