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DESCRIBE <http://purl.uniprot.org/annotation/VAR_069942>
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http://purl.uniprot.org/annotation/VAR_069942
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_069942
http://www.w3.org/2000/01/rdf-schema#comment
"In HH18; the patient carries a second mutation in the HH-associated gene KISS1R; results in decreased expression at the cell surface."
xsd:string
http://purl.uniprot.org/annotation/VAR_069942
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/dbsnp/rs587776979
http://purl.uniprot.org/annotation/VAR_069942
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22861381951633198tt735tt735
http://purl.uniprot.org/annotation/VAR_069942
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/3769
http://purl.uniprot.org/annotation/VAR_069942
http://purl.uniprot.org/core/substitution
"V"
xsd:string
http://purl.uniprot.org/uniprot/Q8NFM7
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_069942
http://purl.uniprot.org/uniprot/#_kb.Q8NFM7_up.annotation_a.VAR_069942
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_069942