Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_assertion> ?p ?o ?g. }
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- NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_assertion type Assertion NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_head.
- NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_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." NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance.
- NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_assertion evidence source_evidence_literature NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance.
- NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_assertion SIO_000772 20400963 NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance.
- NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_assertion wasDerivedFrom befree-20140225 NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance.
- NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_assertion wasGeneratedBy ECO_0000203 NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance.