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DESCRIBE <http://purl.uniprot.org/SHA-384/694B645588ED774A38CFD66EF134B7DFE9E59AA783F46811161F7774AE235A10B5529D7564CD135399DA245526E51CF0>
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http://purl.uniprot.org/SHA-384/694B645588ED774A38CFD66EF134B7DFE9E59AA783F46811161F7774AE235A10B5529D7564CD135399DA245526E51CF0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/694B645588ED774A38CFD66EF134B7DFE9E59AA783F46811161F7774AE235A10B5529D7564CD135399DA245526E51CF0
http://www.w3.org/2000/01/rdf-schema#comment
"The present study identified seven novel mutations of the CLCN7 gene and reported the first case of intermediate autosomal recessive osteopetrosis. with compound heterozygous mutation in the Chinese population."
xsd:string
http://purl.uniprot.org/uniprot/#_2D115AE47993652D6122A5FDB4CD62295DECD41E7CFCE6E46F5330E713072AFB73662F91FE1A9265913B8C31CA8EDC98
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/694B645588ED774A38CFD66EF134B7DFE9E59AA783F46811161F7774AE235A10B5529D7564CD135399DA245526E51CF0
http://purl.uniprot.org/uniprot/B4E3N4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/694B645588ED774A38CFD66EF134B7DFE9E59AA783F46811161F7774AE235A10B5529D7564CD135399DA245526E51CF0
http://purl.uniprot.org/uniprot/#_B4E3N4-mappedCitation-26395888
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/694B645588ED774A38CFD66EF134B7DFE9E59AA783F46811161F7774AE235A10B5529D7564CD135399DA245526E51CF0