Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP735530.RA_r8YMqY25LufnAdZ37Y30ICOZMaEu1x3dxLC1bELB2g130_assertion> ?p ?o ?g. }
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- NP735530.RA_r8YMqY25LufnAdZ37Y30ICOZMaEu1x3dxLC1bELB2g130_assertion type Assertion NP735530.RA_r8YMqY25LufnAdZ37Y30ICOZMaEu1x3dxLC1bELB2g130_head.
- NP735530.RA_r8YMqY25LufnAdZ37Y30ICOZMaEu1x3dxLC1bELB2g130_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." NP735530.RA_r8YMqY25LufnAdZ37Y30ICOZMaEu1x3dxLC1bELB2g130_provenance.
- NP735530.RA_r8YMqY25LufnAdZ37Y30ICOZMaEu1x3dxLC1bELB2g130_assertion evidence source_evidence_literature NP735530.RA_r8YMqY25LufnAdZ37Y30ICOZMaEu1x3dxLC1bELB2g130_provenance.
- NP735530.RA_r8YMqY25LufnAdZ37Y30ICOZMaEu1x3dxLC1bELB2g130_assertion SIO_000772 20400963 NP735530.RA_r8YMqY25LufnAdZ37Y30ICOZMaEu1x3dxLC1bELB2g130_provenance.
- NP735530.RA_r8YMqY25LufnAdZ37Y30ICOZMaEu1x3dxLC1bELB2g130_assertion wasDerivedFrom befree-20140225 NP735530.RA_r8YMqY25LufnAdZ37Y30ICOZMaEu1x3dxLC1bELB2g130_provenance.
- NP735530.RA_r8YMqY25LufnAdZ37Y30ICOZMaEu1x3dxLC1bELB2g130_assertion wasGeneratedBy ECO_0000203 NP735530.RA_r8YMqY25LufnAdZ37Y30ICOZMaEu1x3dxLC1bELB2g130_provenance.