Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_assertion> ?p ?o ?g. }
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- NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_assertion type Assertion NP818593.RA8SLP9ziMLkHvlt1veAc89X8_aZRGCkAaP93j3tAtJEI130_head.
- 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.