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- source_evidence_literature type ECO_0000212 NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP823168.RAXkeXMO0M_H-XYuzMmtjsFN5ydebzJ9Hwq_VMN4lGxVE130_provenance.