BEATRIZ
DIEZ GOMEZ
Investigadora en el periodo 2016-2050
Publicaciones (8) Publicaciones de BEATRIZ DIEZ GOMEZ
2020
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Comprehensive functional characterization and clinical interpretation of 20 splice-site variants of the rad51c gene
Cancers, Vol. 12, Núm. 12, pp. 1-21
2019
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Minigene splicing assays identify 12 spliceogenic variants of BRCA2 exons 14 and 15
Frontiers in Genetics, Vol. 10, Núm. MAY
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Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays
Journal of Pathology, Vol. 248, Núm. 4, pp. 409-420
2018
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Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants
Breast Cancer Research and Treatment, Vol. 171, Núm. 1, pp. 53-63
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Identification of eight spliceogenic variants in BRCA2 Exon 16 by minigene assays
Frontiers in Genetics, Vol. 9, Núm. MAY
2017
2015
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Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons
Human Mutation, Vol. 36, Núm. 2, pp. 210-221
2013
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The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins
Carcinogenesis, Vol. 34, Núm. 11, pp. 2505-2511