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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 2
2010 3
2011 2
2012 2
2013 3
2014 2
2015 1
2017 2
2018 4
2019 5
2020 5
2021 0
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25 results
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Page 1
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
Lopez-Perolio I, Leman R, Behar R, Lattimore V, Pearson JF, Castéra L, Martins A, Vaur D, Goardon N, Davy G, Garre P, García-Barberán V, Llovet P, Pérez-Segura P, Díaz-Rubio E, Caldés T, Hruska KS, Hsuan V, Wu S, Pesaran T, Karam R, Vallon-Christersson J, Borg A; kConFab Investigators, Valenzuela-Palomo A, Velasco EA, Southey M, Vreeswijk MPG, Devilee P, Kvist A, Spurdle AB, Walker LC, Krieger S, de la Hoya M. Lopez-Perolio I, et al. Among authors: velasco ea. J Med Genet. 2019 Jul;56(7):453-460. doi: 10.1136/jmedgenet-2018-105834. Epub 2019 Mar 19. J Med Genet. 2019. PMID: 30890586 Free PMC article.
Identification of a truncated β1-chimaerin variant that inactivates nuclear Rac1.
Casado-Medrano V, Barrio-Real L, Gutiérrez-Miranda L, González-Sarmiento R, Velasco EA, Kazanietz MG, Caloca MJ. Casado-Medrano V, et al. Among authors: velasco ea. J Biol Chem. 2020 Jan 31;295(5):1300-1314. doi: 10.1074/jbc.RA119.008688. Epub 2019 Dec 22. J Biol Chem. 2020. PMID: 31871052 Free PMC article.
Editorial: RNA Splicing and Backsplicing: Disease and Therapy.
Asselta R, Duga S, Velasco EA, Buratti E. Asselta R, et al. Front Genet. 2020 Dec 8;11:626835. doi: 10.3389/fgene.2020.626835. eCollection 2020. Front Genet. 2020. PMID: 33363577 Free PMC article. No abstract available.
Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.
de Garibay GR, Acedo A, García-Casado Z, Gutiérrez-Enríquez S, Tosar A, Romero A, Garre P, Llort G, Thomassen M, Díez O, Pérez-Segura P, Díaz-Rubio E, Velasco EA, Caldés T, de la Hoya M. de Garibay GR, et al. Among authors: velasco ea. Hum Mutat. 2014 Jan;35(1):53-7. doi: 10.1002/humu.22456. Epub 2013 Oct 28. Hum Mutat. 2014. PMID: 24123850 Free article.
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