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 (Q37368000)

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scientific article published on 23 March 2016
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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
scientific article published on 23 March 2016

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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 (English)
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    Omar Soukarieh
    Irene López-Perolio
    Ana Vega
    Yvette van Ierland
    Philip Whiley
    Ana Blanco
    Jan Hauke
    Alexandra Becker
    Raquel Behar
    Diether Niederacher
    Laurent Castera
    Tina Pesaran
    Elizabeth Chao
    Carole Brewer
    Christian F Singer
    Jan Sullivan
    Phuong Mai
    Laura Galastri
    Qin Wang
    Alexandra Martins
    23 March 2016
    2256-2268

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