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A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia.
De Castro-Orós I, Pérez-López J, Mateo-Gallego R, Rebollar S, Ledesma M, León M, Cofán M, Casasnovas JA, Ros E, Rodríguez-Rey JC, Civeira F, Pocoví M. De Castro-Orós I, et al. Among authors: rebollar s. BMC Med Genomics. 2014 Apr 7;7:17. doi: 10.1186/1755-8794-7-17. BMC Med Genomics. 2014. PMID: 24708769 Free PMC article.
Association between missense variants of uncertain significance in the CHEK2 gene and hereditary breast cancer: a cosegregation and bioinformatics analysis.
Alonso N, Menao S, Lastra R, Arruebo M, Bueso MP, Pérez E, Murillo ML, Álvarez M, Alonso A, Rebollar S, Cruellas M, Arribas D, Ramos M, Isla D, Galano-Frutos JJ, García-Cebollada H, Sancho J, Andrés R. Alonso N, et al. Among authors: rebollar s. Front Genet. 2024 Feb 27;14:1274108. doi: 10.3389/fgene.2023.1274108. eCollection 2023. Front Genet. 2024. PMID: 38476463 Free PMC article.