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Repository for lectin-assisted multimodality data
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nephronophthisis 20
Summary
- Synonym
-
- NPHP20
- Definition
- A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15.
- Super Class
- nephronophthisis
External Links
- Disease Ontology
- DOID:0111127
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60336 | Mitogen-activated protein kinase-binding protein 1 |
