SPARQL | HTML Microdata document
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Namespace Prefixes
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Statements
Subject Item _:vb50944631
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n7:ECO_0007645
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n7:IAO_0000115
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An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/8799157
url:https://www.ncbi.nlm.nih.gov/pubmed/421361