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    A Case Report of Clinical Characteristics of Deficiency of Adenosine Deaminase 2 with Pancytopenia by ZHANG Caihui, LIU Liying, ZHANG Zhenjie, WANG Wei, MA Mingsheng, SONG Hongmei

    Published 2024-10-01
    “…Genetic testing showed a novel homozygous mutation in the ADA2 gene (NM_001282225.2:c.712_750dupGACAACGTGCTCTACATGGAGATCAGAGCCAGGCTGCTG), with reduced ADA2 levels in peripheral blood. …”
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