MARIA EUGENIA
FRAILE BETHENCOURT
Researcher in the period 2015-2019
Consejo Superior de Investigaciones Científicas
Madrid, EspañaPublications in collaboration with researchers from Consejo Superior de Investigaciones Científicas (2)
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