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Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions.

作者信息

Hannah William B, Drumm Mitchell L, Nykamp Keith, Pramparo Tiziano, Steiner Robert D, Schrodi Steven J

机构信息

Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH.

Invitae Corporation, San Francisco, CA.

出版信息

Genet Med Open. 2024 Aug 3;2:101881. doi: 10.1016/j.gimo.2024.101881. eCollection 2024.

Abstract
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