Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_provenance.
- NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_assertion description "[Both the index patient (BMI 42.06 kg/m2, height 171 cm, age 19.6 years) and her mother (BMI 37.55 kg/m2, height 164 cm, age 42.5 years) were heterozygous for the deletion. b) A nonsense mutation at position 35 of the MC4-R was detected in two obese probands (BMI 31.29 kg/m2 and BMI 45.91 kg/m2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_provenance.
- NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_assertion evidence source_evidence_curated NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_provenance.
- NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_assertion SIO_000772 10199800 NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_provenance.
- NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_assertion wasDerivedFrom uniprot-2016 NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_provenance.
- NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_assertion wasGeneratedBy ECO_0000218 NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP102.RAcnGMoMwI6C96Stjs2bc_sMbwPjOtUlkR7-cTJem0Q80130_provenance.