Exome-based preconception carrier testing for consanguineous couples in China.
Yi HeRun-Gui XieJi-Wu LouYan-Wei LiChun-Li WangVictor Wei ZhangDong-Zhi LiPublished in: Prenatal diagnosis (2021)
Our study demonstrates that ES-based preconception screening yields a clinical value for Chinese consanguineous couples. It enables to detect at-risk couples for rare AR diseases.
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