Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP320059.RAjCkt1YXN45HGycbljyOfd4Ir55MKt7AWnzO5aGu1n0E130_assertion> ?p ?o ?g. }
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- NP320059.RAjCkt1YXN45HGycbljyOfd4Ir55MKt7AWnzO5aGu1n0E130_assertion type Assertion NP320059.RAjCkt1YXN45HGycbljyOfd4Ir55MKt7AWnzO5aGu1n0E130_head.
- NP320059.RAjCkt1YXN45HGycbljyOfd4Ir55MKt7AWnzO5aGu1n0E130_assertion wasGeneratedBy ECO_0000203 NP320059.RAjCkt1YXN45HGycbljyOfd4Ir55MKt7AWnzO5aGu1n0E130_provenance.
- NP320059.RAjCkt1YXN45HGycbljyOfd4Ir55MKt7AWnzO5aGu1n0E130_assertion wasDerivedFrom befree-20150227 NP320059.RAjCkt1YXN45HGycbljyOfd4Ir55MKt7AWnzO5aGu1n0E130_provenance.
- NP320059.RAjCkt1YXN45HGycbljyOfd4Ir55MKt7AWnzO5aGu1n0E130_assertion SIO_000772 1635348 NP320059.RAjCkt1YXN45HGycbljyOfd4Ir55MKt7AWnzO5aGu1n0E130_provenance.
- NP320059.RAjCkt1YXN45HGycbljyOfd4Ir55MKt7AWnzO5aGu1n0E130_assertion evidence source_evidence_literature NP320059.RAjCkt1YXN45HGycbljyOfd4Ir55MKt7AWnzO5aGu1n0E130_provenance.
- NP320059.RAjCkt1YXN45HGycbljyOfd4Ir55MKt7AWnzO5aGu1n0E130_assertion description "[Mutations in the COL4A5 collagen gene have been implicated as the primary defect in Alport syndrome, a heritable disorder characterized by sensorineural deafness and glomerulonephritis that progresses to end-stage renal failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP320059.RAjCkt1YXN45HGycbljyOfd4Ir55MKt7AWnzO5aGu1n0E130_provenance.