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Browse result for Visual impairment and progressive phthisis bulbi
※ introduction An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.
Reference
DiseaseOntology: Visual impairment and progressive phthisis bulbi
Reference
DiseaseOntology: Visual impairment and progressive phthisis bulbi
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD04674 | P27448 | 4140 | MARK3 | MAP/microtubule affinity-regulating kinase 3 | Homo sapiens |
