PEDRO
PÉREZ SEGURA
Profesor asociado de Ciencias de la Salud
Mercedes
Durán Domínguez
Publicacións nas que colabora con Mercedes Durán Domínguez (3)
2022
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Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants
Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101
2018
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Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study
Human Mutation, Vol. 39, Núm. 9, pp. 1155-1160
2011
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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Human Genetics, Vol. 130, Núm. 5, pp. 685-699