Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance.
- NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_assertion description "[We identified a heterozygous receptor accessory protein 1 (REEP1) exon 2 deletion in a patient suffering from the autosomal dominantly inherited HSP variant SPG31.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance.
- NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_assertion evidence source_evidence_literature NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance.
- NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_assertion SIO_000772 24051375 NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance.
- NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_assertion wasDerivedFrom befree-20140225 NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance.
- NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_assertion wasGeneratedBy ECO_0000203 NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance.