Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_assertion type Assertion NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_head.
- NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_provenance.
- NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_assertion evidence source_evidence_literature NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_provenance.
- NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_assertion SIO_000772 21964829 NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_provenance.
- NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_assertion wasDerivedFrom befree-20140225 NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_provenance.
- NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_assertion wasGeneratedBy ECO_0000203 NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_provenance.