Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_provenance.
- NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_assertion description "[The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_provenance.
- NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_assertion evidence source_evidence_curated NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_provenance.
- NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_assertion SIO_000772 1718984 NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_provenance.
- NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_assertion wasDerivedFrom uniprot-2016 NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_provenance.
- NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_assertion wasGeneratedBy ECO_0000218 NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4811.RAxyGKao_o_9EHrEyFTdBI7GVne38OGr0G8ae7ruou6So130_provenance.