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DESCRIBE <http://purl.uniprot.org/SHA-384/3C871459C18C06ABB70B0F0A5F582EA8F615A45EBAECB538C71F71993D7F5E710108CF845B5FD9916B967DE48D5B1076>
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http://purl.uniprot.org/SHA-384/3C871459C18C06ABB70B0F0A5F582EA8F615A45EBAECB538C71F71993D7F5E710108CF845B5FD9916B967DE48D5B1076
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/3C871459C18C06ABB70B0F0A5F582EA8F615A45EBAECB538C71F71993D7F5E710108CF845B5FD9916B967DE48D5B1076
http://www.w3.org/2000/01/rdf-schema#comment
"Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta has been reported."
xsd:string
http://purl.uniprot.org/uniprot/#_702A20D8D2642CBB991E61848B990000ECDFB988C7E59FCB8639DD5F6952C5945EC75531E6D75E814BDB5C26499F1F4F
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/3C871459C18C06ABB70B0F0A5F582EA8F615A45EBAECB538C71F71993D7F5E710108CF845B5FD9916B967DE48D5B1076
http://purl.uniprot.org/uniprot/Q9NPA9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3C871459C18C06ABB70B0F0A5F582EA8F615A45EBAECB538C71F71993D7F5E710108CF845B5FD9916B967DE48D5B1076
http://purl.uniprot.org/uniprot/#_Q9NPA9-mappedCitation-31179625
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3C871459C18C06ABB70B0F0A5F582EA8F615A45EBAECB538C71F71993D7F5E710108CF845B5FD9916B967DE48D5B1076