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DESCRIBE <http://purl.uniprot.org/annotation/VAR_072253>
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http://purl.uniprot.org/annotation/VAR_072253
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Natural_Variant_Annotation
http://purl.uniprot.org/annotation/VAR_072253
http://www.w3.org/2000/01/rdf-schema#comment
"In DFNA9; induces disulfide bond dimer formation; keeps dimer in the cell and reduces secretion; monomeric and/or homodimeric mutant forms do not prevent interaction with type II collagen."
xsd:string
http://purl.uniprot.org/annotation/VAR_072253
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22293917683692846tt527tt527
http://purl.uniprot.org/annotation/VAR_072253
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/839
http://purl.uniprot.org/annotation/VAR_072253
http://purl.uniprot.org/core/substitution
"C"
xsd:string
http://purl.uniprot.org/uniprot/#_kb.O43405_up.annotation_a.VAR_072253
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_072253
http://purl.uniprot.org/uniprot/O43405
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_072253