BRCA1 RING-domain variants with reported loss of function on the basis of in-vitro functional assays and/or (likely) clinically significant from multifactorial likelihood analysis.
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*p.Met18Thr, p.Cys61Gly and p.Cys64Gly are also shown to have abrogated function using mouse embryonic stem cell assays [44], [49]. (No other variants listed in Table 3 were assayed using this method).
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2015-12-02
