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 ...
Kari Stefansson CEO of deCODE genetics with Guðmundur Nordahl, Thorunn A. Olafsdottir and Katla Kristjansdottir, scientists at deCODE genetics and authors on the paper. Scientists at deCODE genetics, ...
Ambry Genetics, a leader in clinical genomic testing, and now a wholly owned subsidiary of Tempus AI, Inc. (NASDAQ: TEM), today announced its contribution to new research leveraging Multiplexed Assays ...
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 ...
A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study published in Nature, researchers used ...
A recent editorial was published in Oncotarget, titled "Genotype matters: Personalized screening recommendations for germline CHEK2 variants." Recognized as a moderate-risk gene, CHEK2—responsible for ...
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