Marta
Santamariña Pena
![Foto de Marta](/img/nophoto.png)
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Maastricht University Medical Centre
Maastricht, HolandaPublicacións en colaboración con investigadores/as de Maastricht University Medical Centre (4)
2022
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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach
Human Mutation, Vol. 43, Núm. 12, pp. 1921-1944
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
2016
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Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples
Journal of Medical Genetics, Vol. 53, Núm. 8, pp. 548-558
2014
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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