SPARQL | HTML Microdata document
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Statements
Subject Item _:vb50945127
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n7:IAO_0000115
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A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in FBN2 on chromosome 5q23.3.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/9106527
url:https://www.ncbi.nlm.nih.gov/pubmed/4552107
url:https://www.ncbi.nlm.nih.gov/pubmed/9714438