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Additional file 4: of Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

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Figshare2019-01-15 更新2026-04-29 收录
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https://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
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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)
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2019-01-15
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