Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_provenance.
- NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_assertion description "[This study provides the first evidence for a homozygous missense mutation in SCN5A and suggests that LQTS with functional 2:1 AVB in young children, a severe phenotype associated with bad prognosis, may be caused by homozygous or heterozygous compound mutations not only in HERG but also in SCN5A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_provenance.
- NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_assertion evidence source_evidence_literature NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_provenance.
- NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_assertion SIO_000772 11463728 NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_provenance.
- NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_assertion wasDerivedFrom befree-20140225 NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_provenance.
- NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_assertion wasGeneratedBy ECO_0000203 NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP500958.RAG0qHv8vu2PNJ_RKbQv3LLl8oa28271o8x8BBheGMkxc130_provenance.