Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_provenance.
- NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_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." NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_provenance.
- NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_assertion evidence source_evidence_literature NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_provenance.
- NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_assertion SIO_000772 20806400 NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_provenance.
- NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_assertion wasDerivedFrom befree-2016 NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_provenance.
- NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_assertion wasGeneratedBy ECO_0000203 NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_provenance.
- befree-2016 importedOn "2016-02-19" NP836068.RA3Ndh04xzMaApv3yCNFNEoAIH-qr32QIIyR-FoPzDjlM130_provenance.