DOI:
10.1055/s-00000020
Geburtshilfe und Frauenheilkunde
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References
de la Hoya M, Soukarieh O, Lopez-Perolio I. et al.
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.
Hum Mol Genet 2016;
25: 2256-2268
doi:10.1093/hmg/ddw094
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