WES detection and analysis report of SMS gene
收藏NIAID Data Ecosystem2026-03-11 收录
下载链接：
https://doi.org/10.7910/DVN/9NP4JV
下载链接
链接失效反馈官方服务：
资源简介：
The abnormality of SMS gene could induce X chromosome linked Snyder-Robinson mental retardation syndrome(Mental retardation, X-linked, Snyder-Robinson type, SRS [MIM:309583]). Loss of spermine synthase enzymatic activity causes SRS. Decreased SMS enzyme activity confirms the pathogenicity of an SMS sequence variant. SRS shows variable phenotypes and female carriers are normal.
创建时间：
2020-07-21
