MARIA EUGENIA
FRAILE BETHENCOURT
Researcher in the period 2015-2019
ELADIO ANDRES
VELASCO SAMPEDRO
Researcher in the period 2008-2050
Publications by the researcher in collaboration with ELADIO ANDRES VELASCO SAMPEDRO (4)
2019
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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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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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Identification of eight spliceogenic variants in BRCA2 Exon 16 by minigene assays
Frontiers in Genetics, Vol. 9, Núm. MAY