Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes
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DOI: 10.1038/bjc.2017.286
Abstract: Background:Despite a high prevalence of deleterious missense variants, most studies of RAD51C ovarian cancer susceptibility gene only provide in silico pathogenicity predictions of missense changes. We identified a novel deleterious RAD51C missense variant (p.Arg312Trp) in… read more here.
Keywords: rad51c; missense changes; rad51c missense; missense ... See more keywords