Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_assertion> ?p ?o ?g. }
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- NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_assertion type Assertion NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_head.
- NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_assertion description "[A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance.
- NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_assertion evidence source_evidence_curated NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance.
- NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_assertion SIO_000772 11748304 NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance.
- NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_assertion wasDerivedFrom ctd_human-20130708 NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance.
- NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_assertion wasGeneratedBy ECO_0000218 NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance.