Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_provenance.
- NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_assertion description "[To our knowledge, this report constitutes the first evidence of the recessive inheritance of a mutation that causes CMT2; additionally, we suggest that mutations in LMNA may also be the cause of the genetically overlapping disorder CMT2B1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_provenance.
- NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_assertion evidence source_evidence_curated NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_provenance.
- NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_assertion SIO_000772 11799477 NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_provenance.
- NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_assertion wasDerivedFrom uniprot-2016 NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_provenance.
- NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_assertion wasGeneratedBy ECO_0000218 NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1829.RAODbhho03znjFUdn093-v0ntM3G17DFHQ_GydH2-PFeU130_provenance.