Encountered single nucleotide variants (SNVs) overview.
收藏Figshare2015-12-02 更新2026-04-29 收录
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An overview of the single nucleotide variations encountered across the samples. 149 unique positions with single nucleotide variations (SNVs) were found in protein coding sequence, 15 of which gave rise to a different amino acid and were previously unreported in dbSNP (version 130). In total six of these turned out to be false positives when verified by bidirectional Sanger sequencing. Two of the remaining mutations were present in more than one individual and were located in the SATB1 and DDXB26 genes.
创建时间：
2015-12-02
