Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1043355.RALhhoK49C6UZnUYz6861_MnDenwNcPKL38BaVmE0YhgI130_assertion> ?p ?o ?g. }
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- NP1043355.RALhhoK49C6UZnUYz6861_MnDenwNcPKL38BaVmE0YhgI130_assertion type Assertion NP1043355.RALhhoK49C6UZnUYz6861_MnDenwNcPKL38BaVmE0YhgI130_head.
- NP1043355.RALhhoK49C6UZnUYz6861_MnDenwNcPKL38BaVmE0YhgI130_assertion description "[We propose the use of multiplex ligation-dependent probe amplification as a fast, accurate and cheap test for detecting large deletions in the CREBBP gene in the sub-group of Rubinstein-Taybi syndrome patients with low intelligence quotients and autistic features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1043355.RALhhoK49C6UZnUYz6861_MnDenwNcPKL38BaVmE0YhgI130_provenance.
- NP1043355.RALhhoK49C6UZnUYz6861_MnDenwNcPKL38BaVmE0YhgI130_assertion evidence source_evidence_literature NP1043355.RALhhoK49C6UZnUYz6861_MnDenwNcPKL38BaVmE0YhgI130_provenance.
- NP1043355.RALhhoK49C6UZnUYz6861_MnDenwNcPKL38BaVmE0YhgI130_assertion SIO_000772 23315884 NP1043355.RALhhoK49C6UZnUYz6861_MnDenwNcPKL38BaVmE0YhgI130_provenance.
- NP1043355.RALhhoK49C6UZnUYz6861_MnDenwNcPKL38BaVmE0YhgI130_assertion wasDerivedFrom befree-2016 NP1043355.RALhhoK49C6UZnUYz6861_MnDenwNcPKL38BaVmE0YhgI130_provenance.
- NP1043355.RALhhoK49C6UZnUYz6861_MnDenwNcPKL38BaVmE0YhgI130_assertion wasGeneratedBy ECO_0000203 NP1043355.RALhhoK49C6UZnUYz6861_MnDenwNcPKL38BaVmE0YhgI130_provenance.