Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance.
- NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_assertion description "[The p.(Val50Met) mutation in CRYBA2 cosegregated with disease phenotype in a four-generation pedigree with autosomal dominant congenital cataracts with incomplete penetrance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance.
- NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_assertion evidence source_evidence_literature NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance.
- NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_assertion SIO_000772 23508780 NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance.
- NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_assertion wasDerivedFrom befree-20140225 NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance.
- NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_assertion wasGeneratedBy ECO_0000203 NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP641026.RArYScds1q-HQFfjvIh3qibc98dQdDY5tufHzdMxE0Glo130_provenance.