Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP935135.RAd1O0dR21DyvSeDBEmt5L7zEaKIQ4jQ-ZWzd8agWOHIg130_assertion> ?p ?o ?g. }
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- NP935135.RAd1O0dR21DyvSeDBEmt5L7zEaKIQ4jQ-ZWzd8agWOHIg130_assertion type Assertion NP935135.RAd1O0dR21DyvSeDBEmt5L7zEaKIQ4jQ-ZWzd8agWOHIg130_head.
- NP935135.RAd1O0dR21DyvSeDBEmt5L7zEaKIQ4jQ-ZWzd8agWOHIg130_assertion description "[All six patients were found to have heterozygous TRPV4 mutations; three patients had unreported mutations, while three patients had mutations previously described in association with metatropic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP935135.RAd1O0dR21DyvSeDBEmt5L7zEaKIQ4jQ-ZWzd8agWOHIg130_provenance.
- NP935135.RAd1O0dR21DyvSeDBEmt5L7zEaKIQ4jQ-ZWzd8agWOHIg130_assertion evidence source_evidence_literature NP935135.RAd1O0dR21DyvSeDBEmt5L7zEaKIQ4jQ-ZWzd8agWOHIg130_provenance.
- NP935135.RAd1O0dR21DyvSeDBEmt5L7zEaKIQ4jQ-ZWzd8agWOHIg130_assertion SIO_000772 20503319 NP935135.RAd1O0dR21DyvSeDBEmt5L7zEaKIQ4jQ-ZWzd8agWOHIg130_provenance.
- NP935135.RAd1O0dR21DyvSeDBEmt5L7zEaKIQ4jQ-ZWzd8agWOHIg130_assertion wasDerivedFrom befree-20150227 NP935135.RAd1O0dR21DyvSeDBEmt5L7zEaKIQ4jQ-ZWzd8agWOHIg130_provenance.
- NP935135.RAd1O0dR21DyvSeDBEmt5L7zEaKIQ4jQ-ZWzd8agWOHIg130_assertion wasGeneratedBy ECO_0000203 NP935135.RAd1O0dR21DyvSeDBEmt5L7zEaKIQ4jQ-ZWzd8agWOHIg130_provenance.