Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP320062.RA0VGnTTkhrsSTshvU8_4JMvlc-Fn0TIw0x6azVrvb7bA130_assertion> ?p ?o ?g. }
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- NP320062.RA0VGnTTkhrsSTshvU8_4JMvlc-Fn0TIw0x6azVrvb7bA130_assertion type Assertion NP320062.RA0VGnTTkhrsSTshvU8_4JMvlc-Fn0TIw0x6azVrvb7bA130_head.
- NP320062.RA0VGnTTkhrsSTshvU8_4JMvlc-Fn0TIw0x6azVrvb7bA130_assertion description "[Mutations in the type IV collagen gene, COL4A5, are associated with Alport syndrome, characterized by ultrastructural abnormalities of the glomerular basement membrane (GBM), with or without progressive loss of renal function, characteristic ophthalmic signs and/or high tone sensorineural deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP320062.RA0VGnTTkhrsSTshvU8_4JMvlc-Fn0TIw0x6azVrvb7bA130_provenance.
- NP320062.RA0VGnTTkhrsSTshvU8_4JMvlc-Fn0TIw0x6azVrvb7bA130_assertion evidence source_evidence_literature NP320062.RA0VGnTTkhrsSTshvU8_4JMvlc-Fn0TIw0x6azVrvb7bA130_provenance.
- NP320062.RA0VGnTTkhrsSTshvU8_4JMvlc-Fn0TIw0x6azVrvb7bA130_assertion SIO_000772 17277342 NP320062.RA0VGnTTkhrsSTshvU8_4JMvlc-Fn0TIw0x6azVrvb7bA130_provenance.
- NP320062.RA0VGnTTkhrsSTshvU8_4JMvlc-Fn0TIw0x6azVrvb7bA130_assertion wasDerivedFrom befree-20150227 NP320062.RA0VGnTTkhrsSTshvU8_4JMvlc-Fn0TIw0x6azVrvb7bA130_provenance.
- NP320062.RA0VGnTTkhrsSTshvU8_4JMvlc-Fn0TIw0x6azVrvb7bA130_assertion wasGeneratedBy ECO_0000203 NP320062.RA0VGnTTkhrsSTshvU8_4JMvlc-Fn0TIw0x6azVrvb7bA130_provenance.