Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_provenance.
- NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_assertion description "[The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_provenance.
- NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_assertion evidence source_evidence_curated NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_provenance.
- NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_assertion SIO_000772 14733962 NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_provenance.
- NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_assertion wasDerivedFrom uniprot-2016 NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_provenance.
- NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_assertion wasGeneratedBy ECO_0000218 NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3214.RA6HPPvKWepC-LIV8_lJnc1fDloxgi4DgqiPLykf2_vkk130_provenance.