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- source_evidence_literature type ECO_0000212 NP1307731.RANZ0DmlptcyiNDnyVJA6dThToFtH-wHhpMLmgmczwCF0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1307731.RANZ0DmlptcyiNDnyVJA6dThToFtH-wHhpMLmgmczwCF0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1307731.RANZ0DmlptcyiNDnyVJA6dThToFtH-wHhpMLmgmczwCF0130_provenance.
- NP1307731.RANZ0DmlptcyiNDnyVJA6dThToFtH-wHhpMLmgmczwCF0130_assertion description "[We have described a new family with LCAT deficiency and have studied three sisters with characteristic corneal opacities and no detectable plasma LCAT activity, together with eight obligate heterozygotes who have reduced LCAT activity but are phenotypically normal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1307731.RANZ0DmlptcyiNDnyVJA6dThToFtH-wHhpMLmgmczwCF0130_provenance.
- NP1307731.RANZ0DmlptcyiNDnyVJA6dThToFtH-wHhpMLmgmczwCF0130_assertion evidence source_evidence_literature NP1307731.RANZ0DmlptcyiNDnyVJA6dThToFtH-wHhpMLmgmczwCF0130_provenance.
- NP1307731.RANZ0DmlptcyiNDnyVJA6dThToFtH-wHhpMLmgmczwCF0130_assertion SIO_000772 7156322 NP1307731.RANZ0DmlptcyiNDnyVJA6dThToFtH-wHhpMLmgmczwCF0130_provenance.
- NP1307731.RANZ0DmlptcyiNDnyVJA6dThToFtH-wHhpMLmgmczwCF0130_assertion wasDerivedFrom befree-2016 NP1307731.RANZ0DmlptcyiNDnyVJA6dThToFtH-wHhpMLmgmczwCF0130_provenance.
- NP1307731.RANZ0DmlptcyiNDnyVJA6dThToFtH-wHhpMLmgmczwCF0130_assertion wasGeneratedBy ECO_0000203 NP1307731.RANZ0DmlptcyiNDnyVJA6dThToFtH-wHhpMLmgmczwCF0130_provenance.
- befree-2016 importedOn "2016-02-19" NP1307731.RANZ0DmlptcyiNDnyVJA6dThToFtH-wHhpMLmgmczwCF0130_provenance.