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    Functional analysis of germline RAD51C missense variants highlight the role of RAD51C in replication fork protection by Kolinjivadi, Arun Mouli, Chong, Siao Ting, Choudhary, Ramveer, Sankar, Haresh, Chew, Ee Ling, Yeo, Claresta, Chan, Sock Hoai, Ngeow, Joanne

    Published 2023
    “…Investigations using patient-derived lymphoblastoid cell line carrying heterozygous RAD51C L134S variant showed an impairment in RAD51 chromatin association and replication fork protection, suggestive of deleteriousness of this VUS variant. …”
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    Journal Article