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NCBI Description of PCDH19 |
The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene. |
Community Annotation of PCDH19 Add / Edit PCDH19: Annotations
No community annotations yet for PCDH19.
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Figure notes
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Data details