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DESCRIBE <http://purl.uniprot.org/annotation/VAR_069947>
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http://purl.uniprot.org/annotation/VAR_069947
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_069947
http://www.w3.org/2000/01/rdf-schema#comment
"In HH20; some patients have a second mutation in another HH-associated gene including FGFR1, HS6ST1 and FLRT3; the mutant has reduced ability to activate FGFR1."
xsd:string
http://purl.uniprot.org/annotation/VAR_069947
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/dbsnp/rs398123024
http://purl.uniprot.org/annotation/VAR_069947
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22296103788820526tt108tt108
http://purl.uniprot.org/annotation/VAR_069947
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/3771
http://purl.uniprot.org/annotation/VAR_069947
http://purl.uniprot.org/core/substitution
"T"
xsd:string
http://purl.uniprot.org/uniprot/O60258
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_069947
http://purl.uniprot.org/uniprot/#_kb.O60258_up.annotation_a.VAR_069947
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_069947