Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_provenance.
- NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_assertion description "[Three mutations showed strong loss-of-function effects (p.T46R, p.H323Y, and p.T714A) and were associated with high intra-family risk for obesity, while the variants with mild or no effects on SIM1 activity were not associated with obesity within families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_provenance.
- NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_assertion evidence source_evidence_literature NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_provenance.
- NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_assertion SIO_000772 23778136 NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_provenance.
- NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_assertion wasDerivedFrom befree-20140225 NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_provenance.
- NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_assertion wasGeneratedBy ECO_0000203 NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_provenance.
- befree-20140225 importedOn "2014-02-25" NP276703.RAaE7nra36QlwSK_YnvycqLLgxZA9PiZOJqOW_4Q_tB9s130_provenance.