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DESCRIBE <http://purl.uniprot.org/SHA-384/E00407ED34AA5F9F938448D1D7BBCE773D3C090E30C7241EE253C5BEB9ECEF24F751B83A4EC79EE64382053C3F69B0B5>
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http://purl.uniprot.org/SHA-384/E00407ED34AA5F9F938448D1D7BBCE773D3C090E30C7241EE253C5BEB9ECEF24F751B83A4EC79EE64382053C3F69B0B5
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/E00407ED34AA5F9F938448D1D7BBCE773D3C090E30C7241EE253C5BEB9ECEF24F751B83A4EC79EE64382053C3F69B0B5
http://www.w3.org/2000/01/rdf-schema#comment
"Study reports a novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy. Study identified a homozygous nonsense mutation in LAMC3: c.3190C>T (p.Gln1064*)."
xsd:string
http://purl.uniprot.org/uniprot/#_ABE5414940AE756EEBBA6FCC5C1379CB789990C974A61C601EFFE35E7AD51163051166CDBBA5B2B303F675EC6DE94429
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/E00407ED34AA5F9F938448D1D7BBCE773D3C090E30C7241EE253C5BEB9ECEF24F751B83A4EC79EE64382053C3F69B0B5
http://purl.uniprot.org/uniprot/Q9Y6N6
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E00407ED34AA5F9F938448D1D7BBCE773D3C090E30C7241EE253C5BEB9ECEF24F751B83A4EC79EE64382053C3F69B0B5
http://purl.uniprot.org/uniprot/#_Q9Y6N6-mappedCitation-29247375
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E00407ED34AA5F9F938448D1D7BBCE773D3C090E30C7241EE253C5BEB9ECEF24F751B83A4EC79EE64382053C3F69B0B5