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Combined genetic and splicing analysis of BRCA1 c.[594-2A > C; 641A > G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
Hoya, M. de la; Soukarieh, O.; Lopez-Perolio, I.; Vega, A.; Walker, L.C.; Ierland, Y. van; ... ; KConFaB Investigators 2016
Combined genetic and splicing analysis of BRCA1 c.[594-2A > C; 641A > G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
Article / Letter to editor
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