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DESCRIBE <http://purl.uniprot.org/SHA-384/ABFA1FBA7E2B5681C387999757A17875387FF2FBEC020C0B2C203BD31BCE34D714DADCCDC27D5AFE422D4ABEBDF86247>
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http://purl.uniprot.org/SHA-384/ABFA1FBA7E2B5681C387999757A17875387FF2FBEC020C0B2C203BD31BCE34D714DADCCDC27D5AFE422D4ABEBDF86247
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/ABFA1FBA7E2B5681C387999757A17875387FF2FBEC020C0B2C203BD31BCE34D714DADCCDC27D5AFE422D4ABEBDF86247
http://www.w3.org/2000/01/rdf-schema#comment
"we report the first patient with SOFT syndrome harboring compound heterozygous variants of POC1A. understanding POC1A mutations may provide appropriate management and genetic counseling to these patients and their families."
xsd:string
http://purl.uniprot.org/uniprot/#_6E7209DE1404ABA33B9F5A6A4A2DD829175B67C136F8C6C0B41BC2422DDD4D18AEC66A635AA7A0C806991E9F05C6A2F1
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/ABFA1FBA7E2B5681C387999757A17875387FF2FBEC020C0B2C203BD31BCE34D714DADCCDC27D5AFE422D4ABEBDF86247
http://purl.uniprot.org/uniprot/B2RDV4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/ABFA1FBA7E2B5681C387999757A17875387FF2FBEC020C0B2C203BD31BCE34D714DADCCDC27D5AFE422D4ABEBDF86247
http://purl.uniprot.org/uniprot/#_B2RDV4-mappedCitation-26791357
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/ABFA1FBA7E2B5681C387999757A17875387FF2FBEC020C0B2C203BD31BCE34D714DADCCDC27D5AFE422D4ABEBDF86247