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DESCRIBE <http://purl.uniprot.org/SHA-384/69BE688A421D428EF9626263C61E83B140725AB6D510FD3D7612D6447E5BBE1CDE286D8C2FA465BD9F4E4B7B7BDE1662>
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http://purl.uniprot.org/SHA-384/69BE688A421D428EF9626263C61E83B140725AB6D510FD3D7612D6447E5BBE1CDE286D8C2FA465BD9F4E4B7B7BDE1662
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/69BE688A421D428EF9626263C61E83B140725AB6D510FD3D7612D6447E5BBE1CDE286D8C2FA465BD9F4E4B7B7BDE1662
http://www.w3.org/2000/01/rdf-schema#comment
"A male patient with Herlitz junctional epidermolysis bullosa with a novel homozygosity for insertion LAMA3 Premature Termination Codon mutation is described. Both parents and his sibling were shown to be heterozygous carriers."
xsd:string
http://purl.uniprot.org/uniprot/#_B7944025C0A702229C5163E25C43B5374F3905836097A0DD030F4FAD293E75B47259EF551464297E8B7A4B884D361DE3
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/69BE688A421D428EF9626263C61E83B140725AB6D510FD3D7612D6447E5BBE1CDE286D8C2FA465BD9F4E4B7B7BDE1662
http://purl.uniprot.org/uniprot/A0PJJ8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/69BE688A421D428EF9626263C61E83B140725AB6D510FD3D7612D6447E5BBE1CDE286D8C2FA465BD9F4E4B7B7BDE1662
http://purl.uniprot.org/uniprot/#_A0PJJ8-mappedCitation-22963541
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/69BE688A421D428EF9626263C61E83B140725AB6D510FD3D7612D6447E5BBE1CDE286D8C2FA465BD9F4E4B7B7BDE1662