Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_assertion type Assertion NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_head.
- NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_assertion description "[Both overdosage of SOX3, as a result of gene duplication, and loss of function resulting from expansion of the first polyalanine (PA) tract are associated with variable degrees of hypopituitarism, with or without mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance.
- NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_assertion evidence source_evidence_literature NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance.
- NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_assertion SIO_000772 21289259 NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance.
- NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_assertion wasDerivedFrom befree-20140225 NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance.
- NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_assertion wasGeneratedBy ECO_0000203 NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance.