Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP304268.RA9Bpo3gWYIZIuKGrRGvUdq2Em79vXFWjjVA7l04juJe4130_assertion> ?p ?o ?g. }
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- NP304268.RA9Bpo3gWYIZIuKGrRGvUdq2Em79vXFWjjVA7l04juJe4130_assertion type Assertion NP304268.RA9Bpo3gWYIZIuKGrRGvUdq2Em79vXFWjjVA7l04juJe4130_head.
- NP304268.RA9Bpo3gWYIZIuKGrRGvUdq2Em79vXFWjjVA7l04juJe4130_assertion wasGeneratedBy ECO_0000203 NP304268.RA9Bpo3gWYIZIuKGrRGvUdq2Em79vXFWjjVA7l04juJe4130_provenance.
- NP304268.RA9Bpo3gWYIZIuKGrRGvUdq2Em79vXFWjjVA7l04juJe4130_assertion wasDerivedFrom befree-20140225 NP304268.RA9Bpo3gWYIZIuKGrRGvUdq2Em79vXFWjjVA7l04juJe4130_provenance.
- NP304268.RA9Bpo3gWYIZIuKGrRGvUdq2Em79vXFWjjVA7l04juJe4130_assertion SIO_000772 23800062 NP304268.RA9Bpo3gWYIZIuKGrRGvUdq2Em79vXFWjjVA7l04juJe4130_provenance.
- NP304268.RA9Bpo3gWYIZIuKGrRGvUdq2Em79vXFWjjVA7l04juJe4130_assertion evidence source_evidence_literature NP304268.RA9Bpo3gWYIZIuKGrRGvUdq2Em79vXFWjjVA7l04juJe4130_provenance.
- NP304268.RA9Bpo3gWYIZIuKGrRGvUdq2Em79vXFWjjVA7l04juJe4130_assertion description "[Two patients were compound heterozygous for a TTD-causing mutation (c.366G>A, p.R112H) and a novel p.D681H (c.2072G>C) amino acid exchange, but exhibited different TTD and XP/CS complex phenotypes, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP304268.RA9Bpo3gWYIZIuKGrRGvUdq2Em79vXFWjjVA7l04juJe4130_provenance.