Homo sapiens Exome. Homo sapiens
收藏NIAID Data Ecosystem2026-03-12 收录
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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
