Rare Human Phenotypes. Homo sapiens
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下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA247989
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资源简介：
We will perform exome sequencing on the genomes of affected children and parents with rare, well characterized, penetrant, Mendelian disorders in order to identify candidate genes with overrepresentation of functionally disruptive mutations in cases vs. unaffected family members.
创建时间：
2014-05-16
