Additional file 4: of Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
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Details of rare homozygous variants discovered in 74% (39/53) of the ROH cases that has variants relevant or potentially relevant to the phenotype of the patient. (XLSX 32Â kb)
本数据集包含74%(39/53)的纯合子区域(Runs of Homozygosity, ROH)病例中所发现的罕见纯合变异的详细信息,上述变异与患者表型相关或存在潜在相关性。(XLSX 32 KB)
创建时间:
2018-03-20




