Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_provenance.
- NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_assertion description "[Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_provenance.
- NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_assertion evidence source_evidence_curated NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_provenance.
- NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_assertion SIO_000772 9036918 NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_provenance.
- NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_assertion wasDerivedFrom uniprot-2016 NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_provenance.
- NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_assertion wasGeneratedBy ECO_0000218 NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9310.RAZVKTL6TbIqoGEEG0BAZsgiYLYJ-t79_wFQguN0Va7CE130_provenance.