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DESCRIBE <http://purl.uniprot.org/SHA-384/7B481D48B851309F2E25AFA087E9A4BB4C0BF06045986F6180F1F958E9462579CF37EC1AC42F69EE2D738D21A8F6D74F>
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http://purl.uniprot.org/SHA-384/7B481D48B851309F2E25AFA087E9A4BB4C0BF06045986F6180F1F958E9462579CF37EC1AC42F69EE2D738D21A8F6D74F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/7B481D48B851309F2E25AFA087E9A4BB4C0BF06045986F6180F1F958E9462579CF37EC1AC42F69EE2D738D21A8F6D74F
http://www.w3.org/2000/01/rdf-schema#comment
"a novel homozygous mutation in the splice site donor of intron 30 (c.5866+1G>A) in consanguineous Japanese SPG11 siblings showing late-onset spastic paraplegia (whole-exome sequencing)"
xsd:string
http://purl.uniprot.org/uniprot/#_C2FA9EDF4C59840F11D1A88B9ABBAE1F57B15D8180910A06EF7E0D7CBFE96DEB8AAC745FA4E64DFF70750D956DBBA2DF
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/7B481D48B851309F2E25AFA087E9A4BB4C0BF06045986F6180F1F958E9462579CF37EC1AC42F69EE2D738D21A8F6D74F
http://purl.uniprot.org/uniprot/C4B7M3
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/7B481D48B851309F2E25AFA087E9A4BB4C0BF06045986F6180F1F958E9462579CF37EC1AC42F69EE2D738D21A8F6D74F
http://purl.uniprot.org/uniprot/#_C4B7M3-mappedCitation-26671123
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/7B481D48B851309F2E25AFA087E9A4BB4C0BF06045986F6180F1F958E9462579CF37EC1AC42F69EE2D738D21A8F6D74F