Additional file 4: of Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome
收藏Mendeley Data2024-06-29 更新2024-06-27 收录
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https://springernature.figshare.com/articles/dataset/Additional_file_4_of_Whole_exome_sequencing_identified_a_novel_truncation_mutation_in_the_NHS_gene_associated_with_Nance-Horan_syndrome/7587506/1
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Variants in gene NHS accounted for pathogenic clinical conditions. Pathogenic mutation revealed in this study and those reported in ClinVar and Cat Map databases were reviewed in the table. (XLSX 14 kb)
NHS基因（NHS gene）的变异可导致致病性临床病症。本研究中鉴定出的致病性突变，以及ClinVar与Cat Map数据库中报道的致病性突变，均已在本表中进行汇总梳理。（XLSX格式，文件大小14 KB）
创建时间：
2023-06-28
