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DESCRIBE <http://purl.uniprot.org/annotation/VAR_043306>
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http://purl.uniprot.org/annotation/VAR_043306
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_043306
http://www.w3.org/2000/01/rdf-schema#comment
"In NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells."
xsd:string
http://purl.uniprot.org/annotation/VAR_043306
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/dbsnp/rs80358264
http://purl.uniprot.org/annotation/VAR_043306
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22577583177676334tt99tt99
http://purl.uniprot.org/annotation/VAR_043306
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/2056
http://purl.uniprot.org/annotation/VAR_043306
http://purl.uniprot.org/core/substitution
"R"
xsd:string
http://purl.uniprot.org/uniprot/P61916
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_043306
http://purl.uniprot.org/uniprot/#_kb.P61916_up.annotation_a.VAR_043306
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_043306