Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP596870.RAMjZar8fQ1eGNIz1XJgghgLYbim2YrdNfogV65WFJDYo130_assertion> ?p ?o ?g. }
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- NP596870.RAMjZar8fQ1eGNIz1XJgghgLYbim2YrdNfogV65WFJDYo130_assertion type Assertion NP596870.RAMjZar8fQ1eGNIz1XJgghgLYbim2YrdNfogV65WFJDYo130_head.
- NP596870.RAMjZar8fQ1eGNIz1XJgghgLYbim2YrdNfogV65WFJDYo130_assertion description "[Sequencing of the LMNA exons revealed one missense mutation at C568T (Arg190Trp) in the alpha-helical rod domain of the LMNA gene co-segregating with FDC with conduction-system disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP596870.RAMjZar8fQ1eGNIz1XJgghgLYbim2YrdNfogV65WFJDYo130_provenance.
- NP596870.RAMjZar8fQ1eGNIz1XJgghgLYbim2YrdNfogV65WFJDYo130_assertion evidence source_evidence_literature NP596870.RAMjZar8fQ1eGNIz1XJgghgLYbim2YrdNfogV65WFJDYo130_provenance.
- NP596870.RAMjZar8fQ1eGNIz1XJgghgLYbim2YrdNfogV65WFJDYo130_assertion SIO_000772 17334235 NP596870.RAMjZar8fQ1eGNIz1XJgghgLYbim2YrdNfogV65WFJDYo130_provenance.
- NP596870.RAMjZar8fQ1eGNIz1XJgghgLYbim2YrdNfogV65WFJDYo130_assertion wasDerivedFrom befree-2016 NP596870.RAMjZar8fQ1eGNIz1XJgghgLYbim2YrdNfogV65WFJDYo130_provenance.
- NP596870.RAMjZar8fQ1eGNIz1XJgghgLYbim2YrdNfogV65WFJDYo130_assertion wasGeneratedBy ECO_0000203 NP596870.RAMjZar8fQ1eGNIz1XJgghgLYbim2YrdNfogV65WFJDYo130_provenance.