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RPS19 - ribosomal protein S19
- Synonym(s) : DBA, Diamond-Blackfan anemia, eS19, S19
- Previous symbols and names : 'loss of heterozygosity on chromosome 19, region 1', 'loss of heterozygosity, 19, chromosomal region 1', LOH19CR1
- Type : gene with protein product
- Chromosomal location : 19q13.2
- OMIM: 603474
- HGNC: 10402
- UniProtKB: P39019
- Genatlas: RPS19
- GenCC: RPS19
- Ensembl: ENSG00000105372
- IUPHAR-DB: -
- Reactome: P39019
- LOVD: RPS19
Diseases list
- Disease-causing germline mutation(s) in Blackfan-Diamond anemia
ORPHA:124

Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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