Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP626853.RAWmhPVI3jwngXPC3VwFYdzplR9vJoH1dZD9NUksZvvEw130_assertion> ?p ?o ?g. }
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- NP626853.RAWmhPVI3jwngXPC3VwFYdzplR9vJoH1dZD9NUksZvvEw130_assertion type Assertion NP626853.RAWmhPVI3jwngXPC3VwFYdzplR9vJoH1dZD9NUksZvvEw130_head.
- NP626853.RAWmhPVI3jwngXPC3VwFYdzplR9vJoH1dZD9NUksZvvEw130_assertion description "[A grandmother with the PKD1 gene mutation in mosaicism (p.Val1105ArgfsX4) and with mild clinical course of ADPKD (end stage renal failure at the age of 77) seemed to have ADPKD because of PKD2 gene mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP626853.RAWmhPVI3jwngXPC3VwFYdzplR9vJoH1dZD9NUksZvvEw130_provenance.
- NP626853.RAWmhPVI3jwngXPC3VwFYdzplR9vJoH1dZD9NUksZvvEw130_assertion evidence source_evidence_literature NP626853.RAWmhPVI3jwngXPC3VwFYdzplR9vJoH1dZD9NUksZvvEw130_provenance.
- NP626853.RAWmhPVI3jwngXPC3VwFYdzplR9vJoH1dZD9NUksZvvEw130_assertion SIO_000772 23496908 NP626853.RAWmhPVI3jwngXPC3VwFYdzplR9vJoH1dZD9NUksZvvEw130_provenance.
- NP626853.RAWmhPVI3jwngXPC3VwFYdzplR9vJoH1dZD9NUksZvvEw130_assertion wasDerivedFrom befree-20150227 NP626853.RAWmhPVI3jwngXPC3VwFYdzplR9vJoH1dZD9NUksZvvEw130_provenance.
- NP626853.RAWmhPVI3jwngXPC3VwFYdzplR9vJoH1dZD9NUksZvvEw130_assertion wasGeneratedBy ECO_0000203 NP626853.RAWmhPVI3jwngXPC3VwFYdzplR9vJoH1dZD9NUksZvvEw130_provenance.