Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_assertion> ?p ?o ?g. }
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- NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_assertion type Assertion NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_head.
- NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_assertion description "[Affected individuals from this kindred share an epigenetic defect that is indistinguishable from that observed in patients with AD-PHP-Ib who carry the 3-kb microdeletion in the STX16 region (i.e., an isolated loss of methylation at GNAS exon A/B).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance.
- NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_assertion evidence source_evidence_literature NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance.
- NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_assertion SIO_000772 15800843 NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance.
- NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_assertion wasDerivedFrom befree-20140225 NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance.
- NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_assertion wasGeneratedBy ECO_0000203 NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance.