Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_provenance.
- NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_assertion wasGeneratedBy ECO_0000203 NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_provenance.
- NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_assertion wasDerivedFrom befree-20150227 NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_provenance.
- NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_assertion SIO_000772 18554282 NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_provenance.
- NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_assertion evidence source_evidence_literature NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_provenance.
- NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_assertion description "[Mandibuloacral dysplasia type A (MADA; OMIM 248370), a rare disorder caused by mutation in the LMNA gene, is characterized by post-natal growth retardation, craniofacial and skeletal anomalies (mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, low bone mass and joint contractures), cutaneous changes and partial lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP537594.RALBwdRslOkF1YILEtAmAHuQSHZxa8iPZzPe4v2azlZqE130_provenance.