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- source_evidence_literature type ECO_0000212 NP417247.RAxyPiy2zr9borExHGDeV-GXsvADBH97jnqZqwy38EdBc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP417247.RAxyPiy2zr9borExHGDeV-GXsvADBH97jnqZqwy38EdBc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP417247.RAxyPiy2zr9borExHGDeV-GXsvADBH97jnqZqwy38EdBc130_provenance.
- NP417247.RAxyPiy2zr9borExHGDeV-GXsvADBH97jnqZqwy38EdBc130_assertion description "[A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP417247.RAxyPiy2zr9borExHGDeV-GXsvADBH97jnqZqwy38EdBc130_provenance.
- NP417247.RAxyPiy2zr9borExHGDeV-GXsvADBH97jnqZqwy38EdBc130_assertion evidence source_evidence_literature NP417247.RAxyPiy2zr9borExHGDeV-GXsvADBH97jnqZqwy38EdBc130_provenance.
- NP417247.RAxyPiy2zr9borExHGDeV-GXsvADBH97jnqZqwy38EdBc130_assertion SIO_000772 14564162 NP417247.RAxyPiy2zr9borExHGDeV-GXsvADBH97jnqZqwy38EdBc130_provenance.
- NP417247.RAxyPiy2zr9borExHGDeV-GXsvADBH97jnqZqwy38EdBc130_assertion wasDerivedFrom befree-2016 NP417247.RAxyPiy2zr9borExHGDeV-GXsvADBH97jnqZqwy38EdBc130_provenance.
- NP417247.RAxyPiy2zr9borExHGDeV-GXsvADBH97jnqZqwy38EdBc130_assertion wasGeneratedBy ECO_0000203 NP417247.RAxyPiy2zr9borExHGDeV-GXsvADBH97jnqZqwy38EdBc130_provenance.
- befree-2016 importedOn "2016-02-19" NP417247.RAxyPiy2zr9borExHGDeV-GXsvADBH97jnqZqwy38EdBc130_provenance.