YKT6 gene variants may cause novel genetic disorder: Study
The study shows that uncommon mutations in the YKT6 gene are responsible for novel neurological illness characterised by developmental delays. | Health
Stay updated with breaking news from James Lupski. Get real-time updates on events, politics, business, and more. Visit us for reliable news and exclusive interviews.
The study shows that uncommon mutations in the YKT6 gene are responsible for novel neurological illness characterised by developmental delays. | Health
A recent collaborative study has discovered rare variants in the YKT6 gene as the cause of a new neurological disorder characterized by developmental delays along with severe progressive liver disease and a potential risk for liver cancer.
The tool greatly expanded the number of diagnoses researchers could provide for kids with developmental disorders in the U.K. and Ireland.
Large study found genomic analysis delivered answers for 41% of kids with undiagnosed disease
The American Association for the Advancement of Science (AAAS), the world’s largest general scientific society, has elected two Baylor College of