Medical genetics
A database containing information about the Human Factor VII protein, its sequence and diseases cau..
Contains details of 135 intragenic mutations and variants of FOXL2, providing information about hum..
Contains information on mutations associated with Coffin Lowry syndrome. ..
Contains information on the prevalence and incidence of human Mendelian disorders. ..
Contains information on mutations in the TSC2 gene and associated disorders. ..
Genetic variation/mutations in the human AIRE gene. ..