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    Download: A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

    Kui Chen
    University Health Network
    Canada
    Ke Yang
    Institute of Metal Research
    China
    Su-Shan Luo
    Huashan Hospital
    China
    Chen Chen
    Huazhong University of Science and Technology
    China
    Ying Wang
    The Chinese University of Hong Kong
    Hong Kong
    Yi-Xuan Wang
    Northwest A & F University
    China
    Da-Ke Li
    Affliated hospital of Nanjing University of TCM
    China
    Yu-Jie Yang
    Institute of Digestive Diseases
    Yi-Lin Tang
    Fudan University
    China
    BMC Med Genet 2017 Aug 23;18(1):91. Epub 2017 Aug 23.