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DESCRIBE <http://purl.uniprot.org/annotation/VAR_080858>
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http://purl.uniprot.org/annotation/VAR_080858
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_080858
http://www.w3.org/2000/01/rdf-schema#comment
"Found in a family affected by polycystic kidney and liver disease; uncertain significance; the patients carried additional PKD1 variants; the mutation results in significantly reduced WNT3A-induced signaling pathway."
xsd:string
http://purl.uniprot.org/annotation/VAR_080858
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/dbsnp/rs377144001
http://purl.uniprot.org/annotation/VAR_080858
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22297224758769454tt560tt560
http://purl.uniprot.org/annotation/VAR_080858
http://purl.uniprot.org/core/substitution
"C"
xsd:string
http://purl.uniprot.org/uniprot/O75197
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_080858
http://purl.uniprot.org/uniprot/#_kb.O75197_up.annotation_a.VAR_080858
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_080858