SEMA3A and SEMA3D missense variants detected in isolated HSCR patients.
收藏Figshare2015-12-02 更新2026-04-29 收录
下载链接：
https://figshare.com/articles/dataset/_SEMA3A_and_SEMA3D_missense_variants_detected_in_isolated_HSCR_patients_/174068
下载链接
链接失效反馈官方服务：
资源简介：
Detailed information regarding the four SEMA3A and SEMA3D missense variants detected in isolated HSCR patients.*1Both RET and SEMA3A mutations could not be verified to be inherited or de novo events, since DNA samples from the parents of this patient were not available.*2The E198K-SEMA3D mutation could not be verified to be paternally inherited or a de novo event, since paternal DNA was not available.
创建时间：
2015-12-02
