Additional file 1 of Using multi-scale genomics to associate poorly annotated genes with rare diseases
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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Using_multi-scale_genomics_to_associate_poorly_annotated_genes_with_rare_diseases/24946474/1
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资源简介：
Additional file 1: Table S1. Clinical and Genetic Characteristics of the 109-Patient Exome Dataset. Table S2. ClinVar-Simulated Genetic Variants and Associated Phenotypes. Table S3. Newly added disease-gene entries in the Human Phenotype Ontology (HPO) database.
附加文件1：表S1。109例患者外显子组数据集的临床与遗传特征。表S2。临床变异数据库（ClinVar）模拟的遗传变异及其相关表型。表S3。人类表型本体（Human Phenotype Ontology, HPO）数据库中新增的疾病-基因条目。
提供机构：
Allan, Islam Abu; Renbaum, Paul; Zahdeh, Fouad; Avraham, Karen B.; Bloch, Idit; Kassem, Hanin; Canavati, Christina; Sharon, Elad; Tabach, Yuval; Levy-Lahad, Ephrat; Terespolsky, Batel; Kanaan, Moien; Rabie, Grace; Kawas, Mariana; Kamal, Lara; Sherill-Rofe, Dana
创建时间：
2024-01-05
