Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_provenance.
- NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_assertion description "[Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_provenance.
- NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_assertion evidence source_evidence_curated NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_provenance.
- NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_assertion SIO_000772 24676022 NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_provenance.
- NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_assertion wasDerivedFrom uniprot-20150221 NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_provenance.
- NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_assertion wasGeneratedBy ECO_0000218 NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP3091.RAlqMmXZ1xOEqmFmaxJ9q2tQu8ZjhlOS-KioB_OwryXDQ130_provenance.