Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP82346.RAUdSd6Oy6pzQof5ivrQG3NVGtS4hMrImeOjv5GNijYOk130_assertion> ?p ?o ?g. }
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- NP82346.RAUdSd6Oy6pzQof5ivrQG3NVGtS4hMrImeOjv5GNijYOk130_assertion type Assertion NP82346.RAUdSd6Oy6pzQof5ivrQG3NVGtS4hMrImeOjv5GNijYOk130_head.
- NP82346.RAUdSd6Oy6pzQof5ivrQG3NVGtS4hMrImeOjv5GNijYOk130_assertion wasGeneratedBy ECO_0000203 NP82346.RAUdSd6Oy6pzQof5ivrQG3NVGtS4hMrImeOjv5GNijYOk130_provenance.
- NP82346.RAUdSd6Oy6pzQof5ivrQG3NVGtS4hMrImeOjv5GNijYOk130_assertion wasDerivedFrom gad-20150221 NP82346.RAUdSd6Oy6pzQof5ivrQG3NVGtS4hMrImeOjv5GNijYOk130_provenance.
- NP82346.RAUdSd6Oy6pzQof5ivrQG3NVGtS4hMrImeOjv5GNijYOk130_assertion SIO_000772 14584882 NP82346.RAUdSd6Oy6pzQof5ivrQG3NVGtS4hMrImeOjv5GNijYOk130_provenance.
- NP82346.RAUdSd6Oy6pzQof5ivrQG3NVGtS4hMrImeOjv5GNijYOk130_assertion evidence source_evidence_literature NP82346.RAUdSd6Oy6pzQof5ivrQG3NVGtS4hMrImeOjv5GNijYOk130_provenance.
- NP82346.RAUdSd6Oy6pzQof5ivrQG3NVGtS4hMrImeOjv5GNijYOk130_assertion description "[ In 56 of 94 patients with a classical picture of ARO, TCIRG1-dependent recessive mutations were found. In contrast, ClCN7 mutations were found in 12 cases (13%) of severe osteopetrosis, but only 7 of them had two recessive mutations identified: in 6 of t]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP82346.RAUdSd6Oy6pzQof5ivrQG3NVGtS4hMrImeOjv5GNijYOk130_provenance.