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Namespace Prefixes

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owl	http://www.w3.org/2002/07/owl#
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Statements

Subject Item

_:vb50945358

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n6:ECO_0007645

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n6:IAO_0000115

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A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of FBN1 on chromosome 15q21.1.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/21683322