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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD04674P274484140
MARK3
MAP/microtubule affinity-regulating kinase 3
Homo sapiens