Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP654357.RAeX1ACaTbV2hEXIMvhOnRH5tw7_Kn7Wtpo7kyUxgylKU130_assertion> ?p ?o ?g. }
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- NP654357.RAeX1ACaTbV2hEXIMvhOnRH5tw7_Kn7Wtpo7kyUxgylKU130_assertion type Assertion NP654357.RAeX1ACaTbV2hEXIMvhOnRH5tw7_Kn7Wtpo7kyUxgylKU130_head.
- NP654357.RAeX1ACaTbV2hEXIMvhOnRH5tw7_Kn7Wtpo7kyUxgylKU130_assertion description "[A young woman with macrocephaly, tricholemmomas, AV malformations, and mammary papillomatosis was found to be hemizygous for PTEN in her germline DNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP654357.RAeX1ACaTbV2hEXIMvhOnRH5tw7_Kn7Wtpo7kyUxgylKU130_provenance.
- NP654357.RAeX1ACaTbV2hEXIMvhOnRH5tw7_Kn7Wtpo7kyUxgylKU130_assertion evidence source_evidence_literature NP654357.RAeX1ACaTbV2hEXIMvhOnRH5tw7_Kn7Wtpo7kyUxgylKU130_provenance.
- NP654357.RAeX1ACaTbV2hEXIMvhOnRH5tw7_Kn7Wtpo7kyUxgylKU130_assertion SIO_000772 23132533 NP654357.RAeX1ACaTbV2hEXIMvhOnRH5tw7_Kn7Wtpo7kyUxgylKU130_provenance.
- NP654357.RAeX1ACaTbV2hEXIMvhOnRH5tw7_Kn7Wtpo7kyUxgylKU130_assertion wasDerivedFrom befree-20150227 NP654357.RAeX1ACaTbV2hEXIMvhOnRH5tw7_Kn7Wtpo7kyUxgylKU130_provenance.
- NP654357.RAeX1ACaTbV2hEXIMvhOnRH5tw7_Kn7Wtpo7kyUxgylKU130_assertion wasGeneratedBy ECO_0000203 NP654357.RAeX1ACaTbV2hEXIMvhOnRH5tw7_Kn7Wtpo7kyUxgylKU130_provenance.