Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP773624.RAr8YUIyfrH5mWx5GST_UaYplqlK2JIcC9g8ZdDhHMeUQ130_assertion> ?p ?o ?g. }
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- NP773624.RAr8YUIyfrH5mWx5GST_UaYplqlK2JIcC9g8ZdDhHMeUQ130_assertion type Assertion NP773624.RAr8YUIyfrH5mWx5GST_UaYplqlK2JIcC9g8ZdDhHMeUQ130_head.
- NP773624.RAr8YUIyfrH5mWx5GST_UaYplqlK2JIcC9g8ZdDhHMeUQ130_assertion description "[We had previously demonstrated that a complete loss of function in ZMPSTE24 was lethal in the neonatal period, whereas compound heterozygous mutations including one PTC and one missense mutation were associated with type B mandibuloacral dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP773624.RAr8YUIyfrH5mWx5GST_UaYplqlK2JIcC9g8ZdDhHMeUQ130_provenance.
- NP773624.RAr8YUIyfrH5mWx5GST_UaYplqlK2JIcC9g8ZdDhHMeUQ130_assertion evidence source_evidence_literature NP773624.RAr8YUIyfrH5mWx5GST_UaYplqlK2JIcC9g8ZdDhHMeUQ130_provenance.
- NP773624.RAr8YUIyfrH5mWx5GST_UaYplqlK2JIcC9g8ZdDhHMeUQ130_assertion SIO_000772 21267004 NP773624.RAr8YUIyfrH5mWx5GST_UaYplqlK2JIcC9g8ZdDhHMeUQ130_provenance.
- NP773624.RAr8YUIyfrH5mWx5GST_UaYplqlK2JIcC9g8ZdDhHMeUQ130_assertion wasDerivedFrom befree-20140225 NP773624.RAr8YUIyfrH5mWx5GST_UaYplqlK2JIcC9g8ZdDhHMeUQ130_provenance.
- NP773624.RAr8YUIyfrH5mWx5GST_UaYplqlK2JIcC9g8ZdDhHMeUQ130_assertion wasGeneratedBy ECO_0000203 NP773624.RAr8YUIyfrH5mWx5GST_UaYplqlK2JIcC9g8ZdDhHMeUQ130_provenance.