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DESCRIBE <http://purl.uniprot.org/SHA-384/3187F51FB6985EAA958A6C109979398994ED1E0CBC0C60249943FD0E5E5DC91971A15CF106B65FD8FED0A6C22C49593E>
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http://purl.uniprot.org/SHA-384/3187F51FB6985EAA958A6C109979398994ED1E0CBC0C60249943FD0E5E5DC91971A15CF106B65FD8FED0A6C22C49593E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/3187F51FB6985EAA958A6C109979398994ED1E0CBC0C60249943FD0E5E5DC91971A15CF106B65FD8FED0A6C22C49593E
http://www.w3.org/2000/01/rdf-schema#comment
"Study identified a novel heterozygous frameshift mutation in PKD1 gene segregating between affected and unaffected individuals suggesting an involvement in polycystic kidney disease (PKD)."
xsd:string
http://purl.uniprot.org/uniprot/#_E21430DBDA926D6BC8F6035C0C9A8302BED93D822F4688110C6D953AB31904F79B67C8F0827F4BFF2BF5D5E05CB4B443
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/3187F51FB6985EAA958A6C109979398994ED1E0CBC0C60249943FD0E5E5DC91971A15CF106B65FD8FED0A6C22C49593E
http://purl.uniprot.org/uniprot/O75276
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3187F51FB6985EAA958A6C109979398994ED1E0CBC0C60249943FD0E5E5DC91971A15CF106B65FD8FED0A6C22C49593E
http://purl.uniprot.org/uniprot/#_O75276-mappedCitation-28870863
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3187F51FB6985EAA958A6C109979398994ED1E0CBC0C60249943FD0E5E5DC91971A15CF106B65FD8FED0A6C22C49593E