Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_provenance.
- NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_assertion description "[Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be associated with a distinct brain malformation phenotype in females, including disproportionate pontine and cerebellar hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_provenance.
- NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_assertion evidence source_evidence_literature NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_provenance.
- NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_assertion SIO_000772 21954287 NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_provenance.
- NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_assertion wasDerivedFrom befree-20140225 NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_provenance.
- NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_assertion wasGeneratedBy ECO_0000203 NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP289487.RAa5xVP2Beg1RIinUvygm6T2TlrMVkMyB6Lka_KW8QWJw130_provenance.