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DESCRIBE <http://purl.uniprot.org/annotation/VAR_088779>
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http://purl.uniprot.org/annotation/VAR_088779
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_088779
http://www.w3.org/2000/01/rdf-schema#comment
"In MLC3; likely pathogenic; reduced regulatory volume decrease in patient cells exposed to hypotonic shock; increased protein abundance in patient cells."
xsd:string
http://purl.uniprot.org/annotation/VAR_088779
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22862481798475822tt176tt176
http://purl.uniprot.org/annotation/VAR_088779
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/6722
http://purl.uniprot.org/annotation/VAR_088779
http://purl.uniprot.org/core/substitution
"II"
xsd:string
http://purl.uniprot.org/uniprot/Q9NZH0
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_088779
http://purl.uniprot.org/uniprot/#_kb.Q9NZH0_up.annotation_a.VAR_088779
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_088779