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- source_evidence_literature type ECO_0000212 NP725139.RAreE0h_O3eK-kQz0Cqc2F5x4qBV45jaQSul_97Wu2gZE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP725139.RAreE0h_O3eK-kQz0Cqc2F5x4qBV45jaQSul_97Wu2gZE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP725139.RAreE0h_O3eK-kQz0Cqc2F5x4qBV45jaQSul_97Wu2gZE130_provenance.
- NP725139.RAreE0h_O3eK-kQz0Cqc2F5x4qBV45jaQSul_97Wu2gZE130_assertion description "[Here, we describe new missense mutations in three families with MCKD/FJHN and demonstrate allelism with a glomerulocystic kidney disease (GCKD) variant, showing association of cyst dilatation and collapse of glomeruli with some clinical features similar to MCKD/FJHN as hyperuricemia and impairment of urine concentrating ability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP725139.RAreE0h_O3eK-kQz0Cqc2F5x4qBV45jaQSul_97Wu2gZE130_provenance.
- NP725139.RAreE0h_O3eK-kQz0Cqc2F5x4qBV45jaQSul_97Wu2gZE130_assertion evidence source_evidence_literature NP725139.RAreE0h_O3eK-kQz0Cqc2F5x4qBV45jaQSul_97Wu2gZE130_provenance.
- NP725139.RAreE0h_O3eK-kQz0Cqc2F5x4qBV45jaQSul_97Wu2gZE130_assertion SIO_000772 14570709 NP725139.RAreE0h_O3eK-kQz0Cqc2F5x4qBV45jaQSul_97Wu2gZE130_provenance.
- NP725139.RAreE0h_O3eK-kQz0Cqc2F5x4qBV45jaQSul_97Wu2gZE130_assertion wasDerivedFrom befree-20150227 NP725139.RAreE0h_O3eK-kQz0Cqc2F5x4qBV45jaQSul_97Wu2gZE130_provenance.
- NP725139.RAreE0h_O3eK-kQz0Cqc2F5x4qBV45jaQSul_97Wu2gZE130_assertion wasGeneratedBy ECO_0000203 NP725139.RAreE0h_O3eK-kQz0Cqc2F5x4qBV45jaQSul_97Wu2gZE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP725139.RAreE0h_O3eK-kQz0Cqc2F5x4qBV45jaQSul_97Wu2gZE130_provenance.