Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1292072.RAF0qaqKlis1jBHW2yNpaW8sVeH8WKCMalyXGXc7atNgI130_assertion> ?p ?o ?g. }
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- NP1292072.RAF0qaqKlis1jBHW2yNpaW8sVeH8WKCMalyXGXc7atNgI130_assertion type Assertion NP1292072.RAF0qaqKlis1jBHW2yNpaW8sVeH8WKCMalyXGXc7atNgI130_head.
- NP1292072.RAF0qaqKlis1jBHW2yNpaW8sVeH8WKCMalyXGXc7atNgI130_assertion description "[Here, we report a de novo heterozygous T131P mutation in RAD51/FANCR, the key recombinase essential for homologous recombination, in a patient with Fanconi anemia-like phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1292072.RAF0qaqKlis1jBHW2yNpaW8sVeH8WKCMalyXGXc7atNgI130_provenance.
- NP1292072.RAF0qaqKlis1jBHW2yNpaW8sVeH8WKCMalyXGXc7atNgI130_assertion evidence source_evidence_literature NP1292072.RAF0qaqKlis1jBHW2yNpaW8sVeH8WKCMalyXGXc7atNgI130_provenance.
- NP1292072.RAF0qaqKlis1jBHW2yNpaW8sVeH8WKCMalyXGXc7atNgI130_assertion SIO_000772 26253028 NP1292072.RAF0qaqKlis1jBHW2yNpaW8sVeH8WKCMalyXGXc7atNgI130_provenance.
- NP1292072.RAF0qaqKlis1jBHW2yNpaW8sVeH8WKCMalyXGXc7atNgI130_assertion wasDerivedFrom befree-2016 NP1292072.RAF0qaqKlis1jBHW2yNpaW8sVeH8WKCMalyXGXc7atNgI130_provenance.
- NP1292072.RAF0qaqKlis1jBHW2yNpaW8sVeH8WKCMalyXGXc7atNgI130_assertion wasGeneratedBy ECO_0000203 NP1292072.RAF0qaqKlis1jBHW2yNpaW8sVeH8WKCMalyXGXc7atNgI130_provenance.