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MARIA EUGENIA
FRAILE BETHENCOURT
Investigadora en el periodo 2015-2019
Publicaciones (10) Publicaciones de MARIA EUGENIA FRAILE BETHENCOURT
2022
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Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants
Journal of Pathology, Vol. 256, Núm. 3, pp. 321-334
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
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Differential regulation of microRNA-15a by radiation affects angiogenesis and tumor growth via modulation of acid sphingomyelinase
Scientific Reports, Vol. 10, Núm. 1
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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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
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Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, confirm its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome
Frontiers in Genetics, Vol. 9, Núm. JAN
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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