Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_provenance.
- NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_assertion wasGeneratedBy ECO_0000203 NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_provenance.
- NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_assertion wasDerivedFrom befree-20140225 NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_provenance.
- NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_assertion SIO_000772 18554282 NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_provenance.
- NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_assertion evidence source_evidence_literature NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_provenance.
- NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_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." NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_provenance.