Homo sapiens Exome. Homo sapiens
收藏NIAID Data Ecosystem2026-03-12 收录
下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA768798
下载链接
链接失效反馈官方服务：
资源简介：
SCIENTIFIC DISCLOSURE OF MEGALOCORNEA GENETICS AND PHENOTYPIC FINDINGS, A MENDELIAN DISEASE, WITH MINOR EXPRESSION IN CARRIER WOMEN, TO PROVIDE ADEQUATE GENETIC COUNSELING. GENE: CHRDL1 Novel pathogenic variant: c.301+2T>G ACMG CRITERIA: PATHOGENIC: PVS1, PS1, PM4, PM5, PP1, PP4
创建时间：
2021-10-05
