Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_assertion> ?p ?o ?g. }
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- NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_assertion type Assertion NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_head.
- NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_assertion description "[Although some degree of restriction of movements is not uncommon in fetuses with skeletal dysplasia, akinesia as leading sign is unusual and suggests that certain TRPV4 mutations produce both chondrodysplasia and a peripheral neuropathy resulting in a severe `overlap` phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_provenance.
- NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_assertion evidence source_evidence_literature NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_provenance.
- NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_assertion SIO_000772 21964829 NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_provenance.
- NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_assertion wasDerivedFrom befree-20140225 NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_provenance.
- NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_assertion wasGeneratedBy ECO_0000203 NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_provenance.