Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_provenance.
- NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_assertion description "[Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_provenance.
- NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_assertion evidence source_evidence_literature NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_provenance.
- NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_assertion SIO_000772 20806400 NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_provenance.
- NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_assertion wasDerivedFrom befree-20150227 NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_provenance.
- NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_assertion wasGeneratedBy ECO_0000203 NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP883914.RAdjA688e0NfYxjRXLnCxNfizNWYiEjXBa4tTSKip2fuo130_provenance.