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- source_evidence_literature type ECO_0000212 NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_provenance.
- NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_assertion description "[We describe a child who presented with ataxia and pancytopenia and was found to have a heterozygous mutation, c.845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_provenance.
- NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_assertion evidence source_evidence_literature NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_provenance.
- NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_assertion SIO_000772 18979121 NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_provenance.
- NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_assertion wasDerivedFrom befree-20150227 NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_provenance.
- NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_assertion wasGeneratedBy ECO_0000203 NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_provenance.