Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_assertion type Assertion NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_head.
- NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_assertion description "[A detailed review of clinical findings of DA patients with ECEL1 mutations revealed a homogeneous and recognizable phenotype characterized by limited knee flexion, flexed third to fifth fingers and severe muscle atrophy predominant on lower limbs and tongue that suggested a common pathogenic mechanism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_provenance.
- NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_assertion evidence source_evidence_literature NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_provenance.
- NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_assertion SIO_000772 23236030 NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_provenance.
- NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_assertion wasDerivedFrom befree-20150227 NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_provenance.
- NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_assertion wasGeneratedBy ECO_0000203 NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_provenance.