研究多基因背景对"单基因"家族现型的影响

Karen L Oliver1, Ingrid E Scheffer2, Colin A Ellis3

  • 1Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia; Department of Medical Biology, The University of Melbourne, Parkville, VIC, Australia; Epilepsy Research Centre, Department of Medicine (Austin Health), The University of Melbourne, Heidelberg, VIC, Australia.

EBioMedicine
|October 30, 2024
PubMed
概括

常见的遗传因素会影响患有罕见发作变异的家庭中的严重程度. 较高的多基因风险得分与更严重的现象和遗传性患者诊断的可能性增加有关.

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