When the TREX1 gene is functioning normally, it produces a protein that helps maintain DNA in cells throughout the body. Mutations in the TREX1 gene are known to cause a rare and serious disease ...
Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...
10h
Mutation-specific defects in neurological disorders mapped, pointing toward personalized therapies
Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...
A research group from the National Cancer Research Centre (CNIO) has found that an alteration in the POT1 gene prevents lung tissue from regenerating, which over time makes breathing difficult. A ...
A study led by Aaron Hobbs, Ph.D., and Rachel Burge, Ph.D., at MUSC Hollings Cancer Center, reveals why a specific gene ...
Autism spectrum disorder, also known simply as autism or ASD, is a developmental disorder that can vary widely from one patient to another. It can affect how people behave, socialize, or communicate ...
A newly discovered genetic mutation unique to humans may help explain why we are significantly more vulnerable to cancer than our closest evolutionary relatives. Researchers at the University of ...
A newly discovered genetic mutation unique to humans may help explain why we are significantly more vulnerable to cancer than our closest evolutionary relatives. Researchers at the University of ...
EGFR Mutation Detection in Brazilian Patients With Non–Small-Cell Lung Cancer: Lessons From Real-World Data Scenario of Molecular Testing The results of the study showed a biphasic distribution of TMB ...
Results that may be inaccessible to you are currently showing.
Hide inaccessible results