Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_provenance.
- NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_assertion wasGeneratedBy ECO_0000203 NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_provenance.
- NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_assertion wasDerivedFrom befree-20140225 NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_provenance.
- NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_assertion SIO_000772 18310267 NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_provenance.
- NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_assertion evidence source_evidence_literature NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_provenance.
- NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_assertion description "[Our case provides clear evidence that loss-of-function alleles in both alleles of both CLCNKA and CLCNKB results in a phenotype indistinguishable from that of mutations in BSND (type IV BS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP386625.RAdqWQ1i2icRIB3pwNttpLcCesd4zQZhuaS5VDd2tLSNA130_provenance.