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    Functional analysis of clinical BARD1 germline variants by Toh, Ming Ren, Chong, Siao Ting, Chan, Sock Hoai, Low, Chen Ee, Nur Diana Binte Ishak, Lim, Jing Quan, Courtney, Eliza, Ngeow, Joanne

    Published 2020
    “…In view of deficient apoptosis, VUSs (c.1217G>A and c.1918C>A) may be pathogenic or likely pathogenic variants. In summary, functional analysis of BARD1 VUSs requires a combination of assays and, more importantly, the use of appropriate functional assays with consideration to the variant's location.…”
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    Journal Article
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