Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP765078.RAzLoY-5d9bz7rSfc4dKiX5xPIh3P8l2po96AQJQ9sP2I130_assertion> ?p ?o ?g. }
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- NP765078.RAzLoY-5d9bz7rSfc4dKiX5xPIh3P8l2po96AQJQ9sP2I130_assertion type Assertion NP765078.RAzLoY-5d9bz7rSfc4dKiX5xPIh3P8l2po96AQJQ9sP2I130_head.
- NP765078.RAzLoY-5d9bz7rSfc4dKiX5xPIh3P8l2po96AQJQ9sP2I130_assertion description "[We have identified a homozygous missense mutation in the RAD51C gene in a consanguineous family with multiple severe congenital abnormalities characteristic of FA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP765078.RAzLoY-5d9bz7rSfc4dKiX5xPIh3P8l2po96AQJQ9sP2I130_provenance.
- NP765078.RAzLoY-5d9bz7rSfc4dKiX5xPIh3P8l2po96AQJQ9sP2I130_assertion evidence source_evidence_literature NP765078.RAzLoY-5d9bz7rSfc4dKiX5xPIh3P8l2po96AQJQ9sP2I130_provenance.
- NP765078.RAzLoY-5d9bz7rSfc4dKiX5xPIh3P8l2po96AQJQ9sP2I130_assertion SIO_000772 20400963 NP765078.RAzLoY-5d9bz7rSfc4dKiX5xPIh3P8l2po96AQJQ9sP2I130_provenance.
- NP765078.RAzLoY-5d9bz7rSfc4dKiX5xPIh3P8l2po96AQJQ9sP2I130_assertion wasDerivedFrom befree-20140225 NP765078.RAzLoY-5d9bz7rSfc4dKiX5xPIh3P8l2po96AQJQ9sP2I130_provenance.
- NP765078.RAzLoY-5d9bz7rSfc4dKiX5xPIh3P8l2po96AQJQ9sP2I130_assertion wasGeneratedBy ECO_0000203 NP765078.RAzLoY-5d9bz7rSfc4dKiX5xPIh3P8l2po96AQJQ9sP2I130_provenance.