Jesús del Valle
Institut Català d' Oncologia
53 papers found
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Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data
UploadThe BRCA2 R2645G variant increases DNA binding and induces hyper-recombination
Download from doi.orgTumor analysis of MMR genes in Lynch-like syndrome: challenges associated to results interpretation
UploadMosaicism in PTEN—new case and comment on the literature
Download from www.nature.comRNA assay identifies a previous misclassification of BARD1 c.1977A>G variant
Download from www.nature.comGenetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19
Download from doi.orgSolving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk
Download from www.nature.comImproving Genetic Testing in Hereditary Cancer by RNA Analysis
UploadERCC3, a new ovarian cancer susceptibility gene?
UploadCharacteristics of adrenocortical carcinoma associated with Lynch Syndrome
Download from academic.oup.comComprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients
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