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DESCRIBE <http://purl.uniprot.org/SHA-384/735FD106F41323296516FBF990756B1A5258F2CC2BCB97926028C325D9F4DF596EF5CDA8B8FACAE972033C86A40EC070>
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http://purl.uniprot.org/SHA-384/735FD106F41323296516FBF990756B1A5258F2CC2BCB97926028C325D9F4DF596EF5CDA8B8FACAE972033C86A40EC070
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/735FD106F41323296516FBF990756B1A5258F2CC2BCB97926028C325D9F4DF596EF5CDA8B8FACAE972033C86A40EC070
http://www.w3.org/2000/01/rdf-schema#comment
"We identified the homozygous mutation c.746G>A (p.Arg249His) in LIAS in an individual with neonatal-onset epilepsy muscular hypotonia lactic acidosis and elevated glycine concentration in plasma and urine"
xsd:string
http://purl.uniprot.org/uniprot/#_2FBA0708420CC2BE3E391C51F597CD9C75242BD0574A24281C1CD72A09D8F6F1199CAF3156F195940042593F115BD5C4
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/735FD106F41323296516FBF990756B1A5258F2CC2BCB97926028C325D9F4DF596EF5CDA8B8FACAE972033C86A40EC070
http://purl.uniprot.org/uniprot/B4E0L7
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/735FD106F41323296516FBF990756B1A5258F2CC2BCB97926028C325D9F4DF596EF5CDA8B8FACAE972033C86A40EC070
http://purl.uniprot.org/uniprot/#_B4E0L7-mappedCitation-22152680
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/735FD106F41323296516FBF990756B1A5258F2CC2BCB97926028C325D9F4DF596EF5CDA8B8FACAE972033C86A40EC070