Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_provenance.
- NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_assertion description "[Mutations in DYNC1H1 have been described in autosomal-dominant Charcot-Marie-Tooth type 2 and in families with distal spinal muscular atrophy (SMA) predominantly affecting the legs (SMA-LED).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_provenance.
- NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_assertion evidence source_evidence_literature NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_provenance.
- NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_assertion SIO_000772 24307404 NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_provenance.
- NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_assertion wasDerivedFrom befree-20150227 NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_provenance.
- NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_assertion wasGeneratedBy ECO_0000203 NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_provenance.
- befree-20150227 importedOn "2015-02-27" NP356962.RA7glxDANtXUXrsZzw05UU85gaqRMiH6ST8AgpqxRgM5I130_provenance.