Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_provenance.
- NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_assertion description "[We performed whole-exome sequencing and have identified recessive small deletions and missense changes in the Kelch-like family member 41 gene (KLHL41) in four individuals from unrelated NM families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_provenance.
- NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_assertion evidence source_evidence_literature NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_provenance.
- NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_assertion SIO_000772 24268659 NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_provenance.
- NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_assertion wasDerivedFrom befree-20140225 NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_provenance.
- NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_assertion wasGeneratedBy ECO_0000203 NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP221204.RAXpHTW87yCDB1xoKBbZoAiDGsSYgatobfTwRtKwInBPg130_provenance.