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DerechosPreviewFecha Public.TítuloAutor(es)Tipo
openAccessRAD51D_Bueno_PV_Art2021.pdf.jpg2021RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA VariantsBueno-Martínez, Elena CSIC ORCID CVN; Sanoguera-Miralles, Lara CSIC ORCID CVN; Valenzuela-Palomo, Alberto CSIC; Lorca, Víctor; Gómez-Sanz, Alicia; Carvalho, Sara; Allen, Jamie; Infante, Mar CSIC ORCID; Pérez-Segura, Pedro; Lázaro, Conxi; Easton, Douglas F.; Devilee, Peter; Vreeswijk, Maaike P. G.; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID artículo
openAccessTFMicrogliactivada.pdf.jpg2016Señalización en microglía activadaValenzuela-Palomo, Alberto CSICtesis de maestría
openAccessSplicing Analysis_Valenzuela_PV_Art2022.pdf.jpg2022Splicing analysis of 16 PALB2 clinVar variants by minigene assays: identification of six likely pathogenic variantsValenzuela-Palomo, Alberto CSIC; Sanoguera-Miralles, Lara CSIC ORCID CVN; Bueno-Martínez, Elena CSIC ORCID CVN; Esteban-Sánchez, Ada; Llinares-Burguet, Inés CSIC ORCID CVN; García-Álvarez, Alicia CSIC; Pérez-Segura, Pedro; Gómez-Barrero, Susana; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID artículo
openAccess30-mar-2022Splicing Functional Assays of ATM splice-site variants identified in the BRIDGES projectBueno-Martínez, Elena CSIC ORCID CVN; Valenzuela-Palomo, Alberto CSIC; Sanoguera-Miralles, Lara CSIC ORCID CVN; Velasco, Eladio CSIC ORCID dataset
openAccess15-mar-2023Splicing Functional Assays of CHEK2 splice-site variants identified in the BRIDGES projectSanoguera-Miralles, Lara CSIC ORCID CVN; Bueno-Martínez, Elena CSIC ORCID CVN; Valenzuela-Palomo, Alberto CSIC; Velasco, Eladio CSIC ORCID dataset
openAccess12-sep-2022Splicing Functional Assays of PALB2 splice-site variants reported at the ClinVar databaseValenzuela-Palomo, Alberto CSIC; Velasco, Eladio CSIC ORCID dataset
openAccess24-jun-2021Splicing Functional Assays of splice-site variants of the breast cancer gene PALB2 identified in the BRIDGES projectValenzuela-Palomo, Alberto CSIC; Bueno-Martínez, Elena CSIC ORCID CVN; Sanoguera-Miralles, Lara CSIC ORCID CVN; Velasco, Eladio CSIC ORCID dataset
openAccessSplicing predictions_Valenzuela_PV_Art2022.pdf.jpgmar-2022Splicing predictions, minigene analyses and ACMG/AMP clinical classification of 42 germline PALB2 splice-site variantsValenzuela-Palomo, Alberto CSIC; Bueno-Martínez, Elena CSIC ORCID CVN; Sanoguera-Miralles, Lara CSIC ORCID CVN; Lorca, Víctor; Fraile-Bethencourt, Eugenia CSIC ORCID; Esteban-Sánchez, Ada; Gómez-Barrero, Susana; Carvalho, Sara; Allen, Jamie; García-Álvarez, Alicia CSIC; Pérez-Segura, Pedro; Dorling, Leila; Easton, Douglas F.; Devilee, Peter; Vreeswijk, Maaike P. G.; Hoya, Miguel de la; Velasco, Eladio CSIC ORCID artículo
openAccessugtassay.pdf.jpg2020UGT1A1 variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar patient induce aberrant splicing in minigene assaysGailite, Linda; Valenzuela-Palomo, Alberto CSIC; Sanoguera-Miralles, Lara CSIC ORCID CVN; Rots, Dmitrijs; Kreile, Madara; Velasco, Eladio CSIC ORCID artículo
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