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POLE - DNA polymerase epsilon, catalytic subunit
- Synonym(s) : DNA polymerase epsilon catalytic subunit A, POLE1
- Previous symbols and names : Polymerase (DNA directed), epsilon, polymerase (DNA) epsilon, catalytic subunit
- Type : gene with protein product
- Chromosomal location : 12q24.33
- OMIM: 174762
- HGNC: 9177
- UniProtKB: Q07864
- Genatlas: POLE
- Ensembl: ENSG00000177084
- IUPHAR-DB: -
- Reactome: Q07864
- LOVD: POLE
Diseases list
- Disease-causing germline mutation(s) in Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
ORPHA:352712 
- Disease-causing germline mutation(s) in Polymerase proofreading-related adenomatous polyposis
ORPHA:447877 - Disease-causing germline mutation(s) (loss of function) in IMAGe syndrome
ORPHA:85173
: AssessedAdditional information
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Specialised Social Services
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