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- source_evidence_literature type ECO_0000212 NP446815.RA-1s9Qu_LStfYXrR5ayn0-xm4a8XeC_qp3t5mk9OZJJI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP446815.RA-1s9Qu_LStfYXrR5ayn0-xm4a8XeC_qp3t5mk9OZJJI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP446815.RA-1s9Qu_LStfYXrR5ayn0-xm4a8XeC_qp3t5mk9OZJJI130_provenance.
- NP446815.RA-1s9Qu_LStfYXrR5ayn0-xm4a8XeC_qp3t5mk9OZJJI130_assertion description "[Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP446815.RA-1s9Qu_LStfYXrR5ayn0-xm4a8XeC_qp3t5mk9OZJJI130_provenance.
- NP446815.RA-1s9Qu_LStfYXrR5ayn0-xm4a8XeC_qp3t5mk9OZJJI130_assertion evidence source_evidence_literature NP446815.RA-1s9Qu_LStfYXrR5ayn0-xm4a8XeC_qp3t5mk9OZJJI130_provenance.
- NP446815.RA-1s9Qu_LStfYXrR5ayn0-xm4a8XeC_qp3t5mk9OZJJI130_assertion SIO_000772 21990111 NP446815.RA-1s9Qu_LStfYXrR5ayn0-xm4a8XeC_qp3t5mk9OZJJI130_provenance.
- NP446815.RA-1s9Qu_LStfYXrR5ayn0-xm4a8XeC_qp3t5mk9OZJJI130_assertion wasDerivedFrom befree-20140225 NP446815.RA-1s9Qu_LStfYXrR5ayn0-xm4a8XeC_qp3t5mk9OZJJI130_provenance.
- NP446815.RA-1s9Qu_LStfYXrR5ayn0-xm4a8XeC_qp3t5mk9OZJJI130_assertion wasGeneratedBy ECO_0000203 NP446815.RA-1s9Qu_LStfYXrR5ayn0-xm4a8XeC_qp3t5mk9OZJJI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP446815.RA-1s9Qu_LStfYXrR5ayn0-xm4a8XeC_qp3t5mk9OZJJI130_provenance.