Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1357C>T | p.Arg453* | Female | Neither parent is carrier | Rett syndrome-Preserved speech | 2388 | Study of MECP2 Gene in Rett Syndrome Variants and Autistic Girls (See also www.biobank.unisi.it ):Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, and Alessandra Renieri:American Journal of Medical Genetics: 12707946 |
2 | c.1357C>T | p.Arg453* | Female | Not Known | 4422 | :Das, S., Dempsey, M. U. Chicago:: |