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DESCRIBE <http://purl.uniprot.org/SHA-384/A2AA8CD55927FC6A06895061EA4BF00EFDC5A736468B698E9F9533ED59B9FDE67F411CA2B784F40D4D1DE54F56810F19>
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http://purl.uniprot.org/SHA-384/A2AA8CD55927FC6A06895061EA4BF00EFDC5A736468B698E9F9533ED59B9FDE67F411CA2B784F40D4D1DE54F56810F19
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/A2AA8CD55927FC6A06895061EA4BF00EFDC5A736468B698E9F9533ED59B9FDE67F411CA2B784F40D4D1DE54F56810F19
http://www.w3.org/2000/01/rdf-schema#comment
"Study in Tunisian patients extends the mutation spectrum of H syndrome by reporting a novel frame-shift mutation the p.S15Pfs*86 in exon 2 of SLC29A3 gene."
xsd:string
http://purl.uniprot.org/uniprot/#_34C8CC6C91D026826D912084C6B66B90B4CFAAF3CFD9237FC218CF43F8FC02684D8C2CA62BAD820CB4D24B410B66AD8F
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/A2AA8CD55927FC6A06895061EA4BF00EFDC5A736468B698E9F9533ED59B9FDE67F411CA2B784F40D4D1DE54F56810F19
http://purl.uniprot.org/uniprot/Q9BZD2
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/A2AA8CD55927FC6A06895061EA4BF00EFDC5A736468B698E9F9533ED59B9FDE67F411CA2B784F40D4D1DE54F56810F19
http://purl.uniprot.org/uniprot/#_Q9BZD2-mappedCitation-29808591
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/A2AA8CD55927FC6A06895061EA4BF00EFDC5A736468B698E9F9533ED59B9FDE67F411CA2B784F40D4D1DE54F56810F19