COL5A2 gene

COL5A2 gene The COL5A2 gene provides instructions for making a protein called alpha-2 chain of type V collagen. This protein is found…

PAFAH1B1 gene

PAFAH1B1 gene The PAFAH1B1 gene, also known as LIS1, is a genetic sequence that plays an important role in the development and…

DOK7 gene

The DOK7 gene is a genetic variation that has been identified as being related to congenital myasthenic syndrome. This scientific finding has…

NCF2 gene

The NCF2 gene, also known as NADPH oxidase 2, plays a crucial role in the immune system’s response to infection and disease.…

Genes V

Genes V is the fifth installment in the highly acclaimed and influential Genes series. Released in 2018, it continues the tradition of…

Brain-lung-thyroid syndrome

Brain-lung-thyroid syndrome is a rare congenital genetic condition that is associated with difficulty in the normal functioning of the brain, lungs, and…

Hypermethioninemia

Hypermethioninemia is a metabolic disease associated with elevated levels of methionine in the blood. It is usually caused by a genetic defect…

Chromosome 21

Chromosome 21 is a vital part of our genetic makeup, playing a crucial role in our health and well-being. It is one…