Deciphering genetic uncertainty in familial HLH
Blood(2023)
摘要
In this issue of Blood, Noori et al describe a novel in vitro approach to model germline variants in genes associated with familial hemophagocytic lymphohistiocytosis (fHLH). This approach allows for analysis of variants of uncertain significance (VUS), shedding light on the functional consequences of these variants.(1)
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关键词
genetic uncertainty
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