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Actionable exomic incidental findings in 6503 participants: challenges of variant classification

artículo científico publicado en 2015

Cell culture analysis of the regulatory frameshift event required for the expression of mammalian antizymes ⬇️

artículo científico publicado el 1 de noviembre de 2001

Cervical Ribs Are More Prevalent in Stillborn Fetuses than in Live-Born Infants and Are Strongly Associated with Fetal Aneuploidy ⬇️

artículo científico publicado el 28 de junio de 2011

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

artículo científico publicado en 2016

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

article

Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN

Evaluation of the gene–age interactions in HDL cholesterol, LDL cholesterol, and triglyceride levels: The impact of the SORT1 polymorphism on LDL cholesterol levels is age dependent ⬇️

artículo científico publicado el 15 de marzo de 2011

Genetic mechanisms of immune evasion in colorectal cancer

artículo científico publicado en 2018

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival

artículo científico publicado en 2020

Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes ⬇️

artículo científico publicado el 19 de diciembre de 2013

Patient goals, motivations, and attitudes in a patient-driven variant reclassification study

scientific article published on 31 December 2018

Prothrombin time, activated partial thromboplastin time and dilute Russell's Viper Venom times are not shorter in patients with the prothrombin G20210A mutation, and dilute Russell's Viper Venom time may be longer ⬇️

artículo científico publicado el 28 de abril de 2012

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

scientific article published on 20 December 2019

Seropositivity Rates for Measles, Mumps, and Rubella IgG and Costs Associated with Testing and Revaccination ⬇️

artículo científico publicado el 23 de enero de 2013

The Entire Predictive Value of the Prometheus IBD sgi Diagnostic Product May be Due to the Three Least Expensive and Most Available Components ⬇️

artículo científico publicado el 1 de noviembre de 2012

Using Patients Like My Patient for Clinical Decision Support: Institution-Specific Probability of Celiac Disease Diagnosis Using Simplified Near-Neighbor Classification ⬇️

artículo científico publicado el 4 de mayo de 2013

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