Additional file 2: of Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome
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https://springernature.figshare.com/articles/dataset/Additional_file_2_of_Whole_exome_sequencing_identified_a_novel_truncation_mutation_in_the_NHS_gene_associated_with_Nance-Horan_syndrome/7587500/1
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资源简介：
Detailed annotation of the retained 129 variants. ACMG standards were used for variant classification, and the OMIM database was used for priority analysis of the phenotype matching. (XLSX 47 kb)
提供机构：
Ling, Chao; Yao, Fengxia; Sui, Ruifang; Zhang, Shuyang; Zhang, Xue; Wu, Zhihong
创建时间：
2019-01-15
