Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP461770.RA-eYARXi1VDmdqhVM2IjHZL2ex0cnF5U_6VIZ2_FcMrc130_assertion> ?p ?o ?g. }
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- NP461770.RA-eYARXi1VDmdqhVM2IjHZL2ex0cnF5U_6VIZ2_FcMrc130_assertion type Assertion NP461770.RA-eYARXi1VDmdqhVM2IjHZL2ex0cnF5U_6VIZ2_FcMrc130_head.
- NP461770.RA-eYARXi1VDmdqhVM2IjHZL2ex0cnF5U_6VIZ2_FcMrc130_assertion wasGeneratedBy ECO_0000203 NP461770.RA-eYARXi1VDmdqhVM2IjHZL2ex0cnF5U_6VIZ2_FcMrc130_provenance.
- NP461770.RA-eYARXi1VDmdqhVM2IjHZL2ex0cnF5U_6VIZ2_FcMrc130_assertion wasDerivedFrom befree-20140225 NP461770.RA-eYARXi1VDmdqhVM2IjHZL2ex0cnF5U_6VIZ2_FcMrc130_provenance.
- NP461770.RA-eYARXi1VDmdqhVM2IjHZL2ex0cnF5U_6VIZ2_FcMrc130_assertion SIO_000772 18554282 NP461770.RA-eYARXi1VDmdqhVM2IjHZL2ex0cnF5U_6VIZ2_FcMrc130_provenance.
- NP461770.RA-eYARXi1VDmdqhVM2IjHZL2ex0cnF5U_6VIZ2_FcMrc130_assertion evidence source_evidence_literature NP461770.RA-eYARXi1VDmdqhVM2IjHZL2ex0cnF5U_6VIZ2_FcMrc130_provenance.
- NP461770.RA-eYARXi1VDmdqhVM2IjHZL2ex0cnF5U_6VIZ2_FcMrc130_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." NP461770.RA-eYARXi1VDmdqhVM2IjHZL2ex0cnF5U_6VIZ2_FcMrc130_provenance.