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DESCRIBE <http://purl.uniprot.org/SHA-384/32D36EF807CCCAC084105632B1D10AD6DAD9B4B79CCD6A0D90D4A1BD49D7349BA8A290FE57C6EC6E36BECE53CDA46A91>
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http://purl.uniprot.org/SHA-384/32D36EF807CCCAC084105632B1D10AD6DAD9B4B79CCD6A0D90D4A1BD49D7349BA8A290FE57C6EC6E36BECE53CDA46A91
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/32D36EF807CCCAC084105632B1D10AD6DAD9B4B79CCD6A0D90D4A1BD49D7349BA8A290FE57C6EC6E36BECE53CDA46A91
http://www.w3.org/2000/01/rdf-schema#comment
"Visual inspection reveals a novel pathogenic mutation in PKD1 missed by the variant caller in wholeexome sequencing."
xsd:string
http://purl.uniprot.org/uniprot/#_939C784A2DC9827A902EF2EA074254F6900A570FE3ACF5F720BB255775E8BEA2D805BD3CEF106619EE6CD335A197EED7
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/32D36EF807CCCAC084105632B1D10AD6DAD9B4B79CCD6A0D90D4A1BD49D7349BA8A290FE57C6EC6E36BECE53CDA46A91
http://purl.uniprot.org/uniprot/C1JFL6
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/32D36EF807CCCAC084105632B1D10AD6DAD9B4B79CCD6A0D90D4A1BD49D7349BA8A290FE57C6EC6E36BECE53CDA46A91
http://purl.uniprot.org/uniprot/#_C1JFL6-mappedCitation-36281931
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/32D36EF807CCCAC084105632B1D10AD6DAD9B4B79CCD6A0D90D4A1BD49D7349BA8A290FE57C6EC6E36BECE53CDA46A91