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DESCRIBE <http://purl.uniprot.org/annotation/VAR_017887>
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http://purl.uniprot.org/annotation/VAR_017887
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_017887
http://www.w3.org/2000/01/rdf-schema#comment
"In HH2; with cleft palate, corpus callosum agenesis, unilateral deafness and fusion of fourth and fifth metacarpal bones."
xsd:string
http://purl.uniprot.org/annotation/VAR_017887
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/dbsnp/rs121909630
http://purl.uniprot.org/annotation/VAR_017887
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22572085519200814tt167tt167
http://purl.uniprot.org/annotation/VAR_017887
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/618
http://purl.uniprot.org/annotation/VAR_017887
http://purl.uniprot.org/core/substitution
"S"
xsd:string
http://purl.uniprot.org/uniprot/P11362
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_017887
http://purl.uniprot.org/uniprot/#_kb.P11362_up.annotation_a.VAR_017887
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_017887