Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_provenance.
- NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_assertion description "[A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_provenance.
- NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_assertion evidence source_evidence_curated NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_provenance.
- NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_assertion SIO_000772 8339541 NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_provenance.
- NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_assertion wasDerivedFrom uniprot-2016 NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_provenance.
- NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_assertion wasGeneratedBy ECO_0000218 NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8859.RAyOqa7OckLLhOy79ks5h3B9rNXG3V2O3m4nr92xL_17w130_provenance.