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GENE - TERM ANNOTATION REPORT

RGD ID: 1566398
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ppp1r3f
Name: protein phosphatase 1, regulatory subunit 3F
Acc ID: DOID:0112122
Term: X-linked epilepsy with variable learning disabilities and behavior disorders
Definition: An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/14985377/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/21441247/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Ppp1r3f ISOPPP1R3F (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndromePMID:28492532
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