Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP11644.RAy0qb11QC-vQcljuUEGPqEHS-_VPhhirvz6fyLg4sbKk130_assertion> ?p ?o ?g. }
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- NP11644.RAy0qb11QC-vQcljuUEGPqEHS-_VPhhirvz6fyLg4sbKk130_assertion type Assertion NP11644.RAy0qb11QC-vQcljuUEGPqEHS-_VPhhirvz6fyLg4sbKk130_head.
- NP11644.RAy0qb11QC-vQcljuUEGPqEHS-_VPhhirvz6fyLg4sbKk130_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." NP11644.RAy0qb11QC-vQcljuUEGPqEHS-_VPhhirvz6fyLg4sbKk130_provenance.
- NP11644.RAy0qb11QC-vQcljuUEGPqEHS-_VPhhirvz6fyLg4sbKk130_assertion evidence source_evidence_curated NP11644.RAy0qb11QC-vQcljuUEGPqEHS-_VPhhirvz6fyLg4sbKk130_provenance.
- NP11644.RAy0qb11QC-vQcljuUEGPqEHS-_VPhhirvz6fyLg4sbKk130_assertion SIO_000772 11748304 NP11644.RAy0qb11QC-vQcljuUEGPqEHS-_VPhhirvz6fyLg4sbKk130_provenance.
- NP11644.RAy0qb11QC-vQcljuUEGPqEHS-_VPhhirvz6fyLg4sbKk130_assertion wasDerivedFrom ctd_human-2016 NP11644.RAy0qb11QC-vQcljuUEGPqEHS-_VPhhirvz6fyLg4sbKk130_provenance.
- NP11644.RAy0qb11QC-vQcljuUEGPqEHS-_VPhhirvz6fyLg4sbKk130_assertion wasGeneratedBy ECO_0000218 NP11644.RAy0qb11QC-vQcljuUEGPqEHS-_VPhhirvz6fyLg4sbKk130_provenance.