Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP303990.RAV7-jbafaiJmGuW58PSbnpZu1x9h6SZVYFUD5hUmFdAg130_assertion> ?p ?o ?g. }
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- NP303990.RAV7-jbafaiJmGuW58PSbnpZu1x9h6SZVYFUD5hUmFdAg130_assertion type Assertion NP303990.RAV7-jbafaiJmGuW58PSbnpZu1x9h6SZVYFUD5hUmFdAg130_head.
- NP303990.RAV7-jbafaiJmGuW58PSbnpZu1x9h6SZVYFUD5hUmFdAg130_assertion description "[Aberrant methylation of the 11p15.5 imprinted region, through genetic or epigenetic mechanisms, leads to two clinical syndromes, with opposite growth phenotypes: Russell-Silver Syndrome (RSS; with severe fetal and postnatal growth retardation) and Beckwith-Wiedemann Syndrome (BWS; an overgrowth syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP303990.RAV7-jbafaiJmGuW58PSbnpZu1x9h6SZVYFUD5hUmFdAg130_provenance.
- NP303990.RAV7-jbafaiJmGuW58PSbnpZu1x9h6SZVYFUD5hUmFdAg130_assertion evidence source_evidence_literature NP303990.RAV7-jbafaiJmGuW58PSbnpZu1x9h6SZVYFUD5hUmFdAg130_provenance.
- NP303990.RAV7-jbafaiJmGuW58PSbnpZu1x9h6SZVYFUD5hUmFdAg130_assertion SIO_000772 24322424 NP303990.RAV7-jbafaiJmGuW58PSbnpZu1x9h6SZVYFUD5hUmFdAg130_provenance.
- NP303990.RAV7-jbafaiJmGuW58PSbnpZu1x9h6SZVYFUD5hUmFdAg130_assertion wasDerivedFrom befree-20150227 NP303990.RAV7-jbafaiJmGuW58PSbnpZu1x9h6SZVYFUD5hUmFdAg130_provenance.
- NP303990.RAV7-jbafaiJmGuW58PSbnpZu1x9h6SZVYFUD5hUmFdAg130_assertion wasGeneratedBy ECO_0000203 NP303990.RAV7-jbafaiJmGuW58PSbnpZu1x9h6SZVYFUD5hUmFdAg130_provenance.