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DESCRIBE <http://purl.uniprot.org/SHA-384/B972E6EE2FB692730E6026149D7B4C60D4AE9F7404183FB74BBB59F042E19FE2E597FD8BD8FEB711168B27DF904AD02E>
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http://purl.uniprot.org/SHA-384/B972E6EE2FB692730E6026149D7B4C60D4AE9F7404183FB74BBB59F042E19FE2E597FD8BD8FEB711168B27DF904AD02E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/B972E6EE2FB692730E6026149D7B4C60D4AE9F7404183FB74BBB59F042E19FE2E597FD8BD8FEB711168B27DF904AD02E
http://www.w3.org/2000/01/rdf-schema#comment
"3 Verheij syndrome patients with de novo pathogenic variants in PUF60 are described. Mutations in gene PUF60 were analyzed."
xsd:string
http://purl.uniprot.org/uniprot/#_B33AD2A5FD87545C898781E967E652BB8B8772B2DA0B19F89CDEBE9AAF5B483C035F3F67D6219AA7BD0DA264C40C2DBA
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/B972E6EE2FB692730E6026149D7B4C60D4AE9F7404183FB74BBB59F042E19FE2E597FD8BD8FEB711168B27DF904AD02E
http://purl.uniprot.org/uniprot/E9PQ56
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/B972E6EE2FB692730E6026149D7B4C60D4AE9F7404183FB74BBB59F042E19FE2E597FD8BD8FEB711168B27DF904AD02E
http://purl.uniprot.org/uniprot/#_E9PQ56-mappedCitation-28074499
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/B972E6EE2FB692730E6026149D7B4C60D4AE9F7404183FB74BBB59F042E19FE2E597FD8BD8FEB711168B27DF904AD02E