SPARQL | HTML Microdata document
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Statements
Subject Item _:vb50940249
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n3:IAO_0000115
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An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/24113144