Von Hippel–Lindau (VHL) disease is a rare hereditary cancer syndrome that reduces life expectancy. We aimed to construct a more valuable genotype–phenotype correlation based on alterations in VHL ...
A phenotype refers to the observable characteristics or traits of an organism that result from the interaction between its genotype (genetic makeup) and the environment. It encompasses an organism's ...
New research shows that while a three-base pair, in-frame deletion called p.Met992del in the NF1 gene has a mild phenotype for people with the genetic disorder neurofibromatosis type 1, or NF1, the ...
Phenotypes Acute hepatic necrosis, serum enzyme elevations, sinusoidal obstruction, acute fatty liver, nodular regeneration Acute hepatocellular hepatitis, mixed or cholestatic hepatitis, bland ...