Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.479C>G | p.Thr160Ser | Female | Not Known | 2058 | ::: | |
2 | c.479C>G | p.Thr160Ser | Male | Not Rett synd. | 4796 | A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder:Campos, M., Jr, Pestana, C.P., dos Santos, A.V., Ponchel, F., Churchman, S., Abdalla-Carvalho, C.B., dos Santos, J.M., dos Santos, F.L., Gikovate, C.G., Santos-Rebouças, C.B., Pimentel, M.M.G.:Brain & Development: 21600714 |