Next-Generation Sequencing (NGS) data and Sanger sequencing data
收藏Figshare2025-05-27 更新2026-04-28 收录
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https://figshare.com/articles/dataset/_b_Next-Generation_Sequencing_NGS_data_and_Sanger_sequencing_data_b_/29152997
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资源简介：
Non-syndromic congenital nail disorder type 4 (OMIM: 206800) is a rare autosomal recessive condition characterized by severe underdevelopment or complete absence of fingernails and toenails. This disorder results from variants in the RSPO4 gene (OMIM: 610573) located on chromosome 20p13.A novel frameshift variant in the RSPO4 gene—c.268dupA / p.Cys91fs*6—was identified and classified based on WES and Sanger sequence in a Chinese patient .
创建时间：
2025-05-27
