Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP27599.RAcxwXAE6ekpNP-tITfjU0DPdNYxBZoNhHCp9CsFH42j4130_assertion> ?p ?o ?g. }
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- NP27599.RAcxwXAE6ekpNP-tITfjU0DPdNYxBZoNhHCp9CsFH42j4130_assertion type Assertion NP27599.RAcxwXAE6ekpNP-tITfjU0DPdNYxBZoNhHCp9CsFH42j4130_head.
- NP27599.RAcxwXAE6ekpNP-tITfjU0DPdNYxBZoNhHCp9CsFH42j4130_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." NP27599.RAcxwXAE6ekpNP-tITfjU0DPdNYxBZoNhHCp9CsFH42j4130_provenance.
- NP27599.RAcxwXAE6ekpNP-tITfjU0DPdNYxBZoNhHCp9CsFH42j4130_assertion evidence source_evidence_curated NP27599.RAcxwXAE6ekpNP-tITfjU0DPdNYxBZoNhHCp9CsFH42j4130_provenance.
- NP27599.RAcxwXAE6ekpNP-tITfjU0DPdNYxBZoNhHCp9CsFH42j4130_assertion SIO_000772 11748304 NP27599.RAcxwXAE6ekpNP-tITfjU0DPdNYxBZoNhHCp9CsFH42j4130_provenance.
- NP27599.RAcxwXAE6ekpNP-tITfjU0DPdNYxBZoNhHCp9CsFH42j4130_assertion wasDerivedFrom ctd_human-20130708 NP27599.RAcxwXAE6ekpNP-tITfjU0DPdNYxBZoNhHCp9CsFH42j4130_provenance.
- NP27599.RAcxwXAE6ekpNP-tITfjU0DPdNYxBZoNhHCp9CsFH42j4130_assertion wasGeneratedBy ECO_0000218 NP27599.RAcxwXAE6ekpNP-tITfjU0DPdNYxBZoNhHCp9CsFH42j4130_provenance.