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DESCRIBE <http://purl.uniprot.org/annotation/VAR_057964>
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http://purl.uniprot.org/annotation/VAR_057964
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_057964
http://www.w3.org/2000/01/rdf-schema#comment
"In HH6; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; some patients also carry mutations in FGFR1."
xsd:string
http://purl.uniprot.org/annotation/VAR_057964
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/dbsnp/rs137852661
http://purl.uniprot.org/annotation/VAR_057964
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22576500695315758tt40tt40
http://purl.uniprot.org/annotation/VAR_057964
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/622
http://purl.uniprot.org/annotation/VAR_057964
http://purl.uniprot.org/core/substitution
"L"
xsd:string
http://purl.uniprot.org/uniprot/P55075
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_057964
http://purl.uniprot.org/uniprot/#_kb.P55075_up.annotation_a.VAR_057964
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_057964