Dr. Courtney states, “When the SYNGAP1 gene encodes a truncation, caused by a nonsense, frame-shift or other mutation, loss of SynGAP1 protein results in disease. But what happens when there is a ...
Relationship Among DNA Damage Response Gene Alterations, Molecular Subtypes, and Survival Outcomes in Patients With Metastatic Bladder Cancer Treated on CALGB 90601 Sequencing data from 56,965 ...
Genetic risk models, including PREMMplus and BOADICEA/CanRisk, refine breast cancer risk assessment by incorporating genetic status and polygenic risk scores. Challenges in classifying gene variants, ...
A study headed by researchers at the Centre for Genomic Regulation (CRG) in Barcelona has provided for the first time evidence that a single drug, already licensed for medical use, can stabilize ...
Hiroshima University researchers have developed a practical framework to identify candidate pathogenic variants hidden among the large number of variants of uncertain significance (VUS) detected in ...
Findings may improve personalised drug prescription and adverse drug reactions. A new in vivo pharmacokinetic recall study involving 114 participants in the Estonian Biobank has provided the first ...
Scientists at deCODE genetics, a subsidiary of Amgen, and collaborators have published a study in Journal of Allergy and Clinical Immunology reporting a rare missense variant in STAT6 that protects ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results