Marta
Santamariña Pena
![Foto de Marta](/img/nophoto.png)
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University of Queensland
Brisbane, AustraliaPublicacións en colaboración con investigadores/as de University of Queensland (6)
2020
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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Nature Genetics, Vol. 52, Núm. 1, pp. 56-73
2019
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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
npj Breast Cancer, Vol. 5, Núm. 1
2018
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BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding
Human Mutation, Vol. 39, Núm. 12, pp. 2025-2039
2014
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Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing
Clinical Chemistry, Vol. 60, Núm. 2, pp. 341-352
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Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: A report from the ENIGMA consortium
Human Molecular Genetics, Vol. 23, Núm. 14, pp. 3666-3680