Visualitza per autor "Moles Fernandez, Alejandro"
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A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
Porras, Luz-Marina; Moles Fernandez, Alejandro; Santamariña, Marta; Sánchez, Alysson T.; Padilla Sirera, Natàlia; Feliubadaló, Lidia; diez, orland; Gutiérrez-Enríquez, Sara; De la Cruz Montserrat, Fco. Xavier (Elsevier, 2024-01) -
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects
Li, Na; Zethoven, Magnus; McInerny, Simone; Devereux, Lisa; Huang, Yu-Kuan; Thio, Niko; Gutierrez Enriquez, Sara; Moles Fernandez, Alejandro; Diez Gibert, Orland (Nature Research, 2021-04-12) -
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes
Moles Fernandez, Alejandro; Domènech Vivó, Joanna; Tenés Felipe, Anna; Balmaña Gelpí, Judith; Diez Gibert, Orland; Gutierrez Enriquez, Sara (MDPI, 2021-07-03)