Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_assertion> ?p ?o ?g. }
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- NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_assertion type Assertion NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_head.
- NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_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." NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance.
- NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_assertion evidence source_evidence_literature NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance.
- NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_assertion SIO_000772 20503319 NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance.
- NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_assertion wasDerivedFrom befree-2016 NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance.
- NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_assertion wasGeneratedBy ECO_0000203 NP814799.RA0jtLkv37zmTRnehMIp0qo7rIakMiK9j2cCgn6kAai-A130_provenance.