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DESCRIBE <http://purl.uniprot.org/SHA-384/65002730B8D346D741D98FE8878C9F9576DCC66448C864EFBF08598E1AD3FD3BABB65FE3B92EB03FA06D63A90AA96C5C>
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http://purl.uniprot.org/SHA-384/65002730B8D346D741D98FE8878C9F9576DCC66448C864EFBF08598E1AD3FD3BABB65FE3B92EB03FA06D63A90AA96C5C
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/65002730B8D346D741D98FE8878C9F9576DCC66448C864EFBF08598E1AD3FD3BABB65FE3B92EB03FA06D63A90AA96C5C
http://www.w3.org/2000/01/rdf-schema#comment
"screened 43 families with infantile nephronophthisis (ESRD less than 5 years of age) for NPHP2 and NPHP3 mutations and determined genotype-phenotype correlations"
xsd:string
http://purl.uniprot.org/uniprot/#_1E0027D67AB63864191CEE6F1DF72276FB50810B1B584DE932A66CBCB3A0192D27032BC996F64D937BDA1751E8C6C96A
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/65002730B8D346D741D98FE8878C9F9576DCC66448C864EFBF08598E1AD3FD3BABB65FE3B92EB03FA06D63A90AA96C5C
http://purl.uniprot.org/uniprot/Q7Z494
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/65002730B8D346D741D98FE8878C9F9576DCC66448C864EFBF08598E1AD3FD3BABB65FE3B92EB03FA06D63A90AA96C5C
http://purl.uniprot.org/uniprot/#_Q7Z494-mappedCitation-19177160
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/65002730B8D346D741D98FE8878C9F9576DCC66448C864EFBF08598E1AD3FD3BABB65FE3B92EB03FA06D63A90AA96C5C