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RERE - arginine-glutamic acid dipeptide repeats
- Synonym(s) : ARG, ARP, ATN2, atrophin 2, DNB1, KIAA0458
- Previous symbols and names : ATN1L, arginine-glutamic acid dipeptide (RE) repeats
- Type : gene with protein product
- Chromosomal location : 1p36.23
- OMIM: 605226
- HGNC: 9965
- UniProtKB: Q9P2R6
- Genatlas: RERE
- GenCC: RERE
- Ensembl: ENSG00000142599
- IUPHAR-DB: -
- Reactome: Q9P2R6
- LOVD: RERE
Diseases list
- Disease-causing germline mutation(s) (loss of function) in RERE-related neurodevelopmental syndrome
ORPHA:494344 
- Role in the phenotype of 1p36 deletion syndrome
ORPHA:1606
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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