Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP765545.RAFrN12UKSaMPhLWwFd5n_vwq0yIm9vZohxpBrWuemPyQ130_assertion> ?p ?o ?g. }
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- NP765545.RAFrN12UKSaMPhLWwFd5n_vwq0yIm9vZohxpBrWuemPyQ130_assertion type Assertion NP765545.RAFrN12UKSaMPhLWwFd5n_vwq0yIm9vZohxpBrWuemPyQ130_head.
- NP765545.RAFrN12UKSaMPhLWwFd5n_vwq0yIm9vZohxpBrWuemPyQ130_assertion description "[Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP765545.RAFrN12UKSaMPhLWwFd5n_vwq0yIm9vZohxpBrWuemPyQ130_provenance.
- NP765545.RAFrN12UKSaMPhLWwFd5n_vwq0yIm9vZohxpBrWuemPyQ130_assertion evidence source_evidence_literature NP765545.RAFrN12UKSaMPhLWwFd5n_vwq0yIm9vZohxpBrWuemPyQ130_provenance.
- NP765545.RAFrN12UKSaMPhLWwFd5n_vwq0yIm9vZohxpBrWuemPyQ130_assertion SIO_000772 19232556 NP765545.RAFrN12UKSaMPhLWwFd5n_vwq0yIm9vZohxpBrWuemPyQ130_provenance.
- NP765545.RAFrN12UKSaMPhLWwFd5n_vwq0yIm9vZohxpBrWuemPyQ130_assertion wasDerivedFrom befree-20140225 NP765545.RAFrN12UKSaMPhLWwFd5n_vwq0yIm9vZohxpBrWuemPyQ130_provenance.
- NP765545.RAFrN12UKSaMPhLWwFd5n_vwq0yIm9vZohxpBrWuemPyQ130_assertion wasGeneratedBy ECO_0000203 NP765545.RAFrN12UKSaMPhLWwFd5n_vwq0yIm9vZohxpBrWuemPyQ130_provenance.