Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP417683.RA7s2ECwV8NZTEdVtlkchnmdosfZgkmJuQwxcXQqCHHLo130_assertion> ?p ?o ?g. }
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- NP417683.RA7s2ECwV8NZTEdVtlkchnmdosfZgkmJuQwxcXQqCHHLo130_assertion type Assertion NP417683.RA7s2ECwV8NZTEdVtlkchnmdosfZgkmJuQwxcXQqCHHLo130_head.
- NP417683.RA7s2ECwV8NZTEdVtlkchnmdosfZgkmJuQwxcXQqCHHLo130_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." NP417683.RA7s2ECwV8NZTEdVtlkchnmdosfZgkmJuQwxcXQqCHHLo130_provenance.
- NP417683.RA7s2ECwV8NZTEdVtlkchnmdosfZgkmJuQwxcXQqCHHLo130_assertion evidence source_evidence_literature NP417683.RA7s2ECwV8NZTEdVtlkchnmdosfZgkmJuQwxcXQqCHHLo130_provenance.
- NP417683.RA7s2ECwV8NZTEdVtlkchnmdosfZgkmJuQwxcXQqCHHLo130_assertion SIO_000772 14570709 NP417683.RA7s2ECwV8NZTEdVtlkchnmdosfZgkmJuQwxcXQqCHHLo130_provenance.
- NP417683.RA7s2ECwV8NZTEdVtlkchnmdosfZgkmJuQwxcXQqCHHLo130_assertion wasDerivedFrom befree-2016 NP417683.RA7s2ECwV8NZTEdVtlkchnmdosfZgkmJuQwxcXQqCHHLo130_provenance.
- NP417683.RA7s2ECwV8NZTEdVtlkchnmdosfZgkmJuQwxcXQqCHHLo130_assertion wasGeneratedBy ECO_0000203 NP417683.RA7s2ECwV8NZTEdVtlkchnmdosfZgkmJuQwxcXQqCHHLo130_provenance.