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 ...
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 ...
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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 ...
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