Genetics

Genetic Conditions G

What is a gene variant and how do variants occur

FKTN gene

Congenital bilateral absence of the vas deferens

Triosephosphate isomerase deficiency

Carbonic anhydrase VA deficiency

PHKA1 gene

Diastrophic dysplasia

Succinate-CoA ligase deficiency

PMS2 gene

Hereditary sensory neuropathy type IA

Autism spectrum disorder