Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_assertion> ?p ?o ?g. }
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- NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_assertion type Assertion NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_head.
- NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_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." NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance.
- NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_assertion evidence source_evidence_literature NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance.
- NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_assertion SIO_000772 21267004 NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance.
- NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_assertion wasDerivedFrom befree-2016 NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance.
- NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_assertion wasGeneratedBy ECO_0000203 NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance.