Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance.
- NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_assertion wasGeneratedBy ECO_0000203 NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance.
- NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_assertion wasDerivedFrom befree-20150227 NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance.
- NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_assertion SIO_000772 19473076 NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance.
- NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_assertion evidence source_evidence_literature NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance.
- NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_assertion description "[A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance.