Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP692893.RATpMQr8GiSCQXVB6h2hKdMnT11P5hsCHPNYqQsj-eF28130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP692893.RATpMQr8GiSCQXVB6h2hKdMnT11P5hsCHPNYqQsj-eF28130_assertion type Assertion NP692893.RATpMQr8GiSCQXVB6h2hKdMnT11P5hsCHPNYqQsj-eF28130_head.
- NP692893.RATpMQr8GiSCQXVB6h2hKdMnT11P5hsCHPNYqQsj-eF28130_assertion wasGeneratedBy ECO_0000203 NP692893.RATpMQr8GiSCQXVB6h2hKdMnT11P5hsCHPNYqQsj-eF28130_provenance.
- NP692893.RATpMQr8GiSCQXVB6h2hKdMnT11P5hsCHPNYqQsj-eF28130_assertion wasDerivedFrom befree-20140225 NP692893.RATpMQr8GiSCQXVB6h2hKdMnT11P5hsCHPNYqQsj-eF28130_provenance.
- NP692893.RATpMQr8GiSCQXVB6h2hKdMnT11P5hsCHPNYqQsj-eF28130_assertion SIO_000772 18554282 NP692893.RATpMQr8GiSCQXVB6h2hKdMnT11P5hsCHPNYqQsj-eF28130_provenance.
- NP692893.RATpMQr8GiSCQXVB6h2hKdMnT11P5hsCHPNYqQsj-eF28130_assertion evidence source_evidence_literature NP692893.RATpMQr8GiSCQXVB6h2hKdMnT11P5hsCHPNYqQsj-eF28130_provenance.
- NP692893.RATpMQr8GiSCQXVB6h2hKdMnT11P5hsCHPNYqQsj-eF28130_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." NP692893.RATpMQr8GiSCQXVB6h2hKdMnT11P5hsCHPNYqQsj-eF28130_provenance.