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DESCRIBE <http://purl.uniprot.org/annotation/VAR_069944>
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http://purl.uniprot.org/annotation/VAR_069944
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_069944
http://www.w3.org/2000/01/rdf-schema#comment
"In HH19; the patient carries a second mutation in the HH-associated gene FGFR1."
xsd:string
http://purl.uniprot.org/annotation/VAR_069944
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/dbsnp/rs139318648
http://purl.uniprot.org/annotation/VAR_069944
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22853582054373422tt182tt182
http://purl.uniprot.org/annotation/VAR_069944
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/3770
http://purl.uniprot.org/annotation/VAR_069944
http://purl.uniprot.org/core/substitution
"F"
xsd:string
http://purl.uniprot.org/uniprot/Q16828
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_069944
http://purl.uniprot.org/uniprot/#_kb.Q16828_up.annotation_a.VAR_069944
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_069944