Marta
Santamariña Pena
![Foto de Marta](/img/nophoto.png)
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National Institutes of Health
Bethesda, Estados UnidosPublicacións en colaboración con investigadores/as de National Institutes of Health (1)
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
Human Molecular Genetics, Vol. 25, Núm. 11, pp. 2256-2268