Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_assertion> ?p ?o ?g. }
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- NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_assertion type Assertion NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_head.
- NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_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." NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_provenance.
- NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_assertion evidence source_evidence_literature NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_provenance.
- NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_assertion SIO_000772 21964829 NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_provenance.
- NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_assertion wasDerivedFrom befree-20140225 NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_provenance.
- NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_assertion wasGeneratedBy ECO_0000203 NP893823.RA_1Ase99vwR9qU3pmiEZ_jqZ-CTfqW_Da034M319djfM130_provenance.