Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP159805.RADvNvrp04gz8VtOh2HxgvwvI02sD4XlU7j1Rf1OTSbng130_assertion> ?p ?o ?g. }
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- NP159805.RADvNvrp04gz8VtOh2HxgvwvI02sD4XlU7j1Rf1OTSbng130_assertion type Assertion NP159805.RADvNvrp04gz8VtOh2HxgvwvI02sD4XlU7j1Rf1OTSbng130_head.
- NP159805.RADvNvrp04gz8VtOh2HxgvwvI02sD4XlU7j1Rf1OTSbng130_assertion description "[Recent studies have reported loss-of-function mutations in the chloride channel 7 (CLCN7) gene as a cause of autosomal dominant osteopetrosis type II (ADO-II).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP159805.RADvNvrp04gz8VtOh2HxgvwvI02sD4XlU7j1Rf1OTSbng130_provenance.
- NP159805.RADvNvrp04gz8VtOh2HxgvwvI02sD4XlU7j1Rf1OTSbng130_assertion evidence source_evidence_literature NP159805.RADvNvrp04gz8VtOh2HxgvwvI02sD4XlU7j1Rf1OTSbng130_provenance.
- NP159805.RADvNvrp04gz8VtOh2HxgvwvI02sD4XlU7j1Rf1OTSbng130_assertion SIO_000772 19288050 NP159805.RADvNvrp04gz8VtOh2HxgvwvI02sD4XlU7j1Rf1OTSbng130_provenance.
- NP159805.RADvNvrp04gz8VtOh2HxgvwvI02sD4XlU7j1Rf1OTSbng130_assertion wasDerivedFrom befree-20140225 NP159805.RADvNvrp04gz8VtOh2HxgvwvI02sD4XlU7j1Rf1OTSbng130_provenance.
- NP159805.RADvNvrp04gz8VtOh2HxgvwvI02sD4XlU7j1Rf1OTSbng130_assertion wasGeneratedBy ECO_0000203 NP159805.RADvNvrp04gz8VtOh2HxgvwvI02sD4XlU7j1Rf1OTSbng130_provenance.