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Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report

BMC Medical Genetics
2018-12 | Journal article
DOI: 10.1186/s12881-018-0600-2
Contributors: Xijiang Hu; Dongling Liu; Xiwen Jiang; Bo Gao; Changying Chen
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Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH

BMC Medical Genetics
2017-12 | Journal article
DOI: 10.1186/s12881-017-0489-1
Contributors: Dongling Liu; Xijiang Hu; Xiwen Jiang; Bo Gao; Cheng Wan; Changying Chen
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