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- source_evidence_literature type ECO_0000212 NP257547.RAj6V0x3LcSmYgFusnP3CndcBJsBRlSTceY1SSR1lrWQ0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP257547.RAj6V0x3LcSmYgFusnP3CndcBJsBRlSTceY1SSR1lrWQ0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP257547.RAj6V0x3LcSmYgFusnP3CndcBJsBRlSTceY1SSR1lrWQ0130_provenance.
- NP257547.RAj6V0x3LcSmYgFusnP3CndcBJsBRlSTceY1SSR1lrWQ0130_assertion description "[In one ATMDS case where DNA samples from several time points were available, the proportion of ATRX-mutant subclones correlated with changes in the amount of hemoglobin H. This study strengthens the link between acquired, somatic ATRX mutations and ATMDS, illustrates how molecular defects associated with MDS and other hematologic malignancies masked by somatic mosaicism may be detected by DHPLC, and shows that additional factors increase the severity of the hematologic phenotype of ATRX mutations in ATMDS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP257547.RAj6V0x3LcSmYgFusnP3CndcBJsBRlSTceY1SSR1lrWQ0130_provenance.
- NP257547.RAj6V0x3LcSmYgFusnP3CndcBJsBRlSTceY1SSR1lrWQ0130_assertion evidence source_evidence_literature NP257547.RAj6V0x3LcSmYgFusnP3CndcBJsBRlSTceY1SSR1lrWQ0130_provenance.
- NP257547.RAj6V0x3LcSmYgFusnP3CndcBJsBRlSTceY1SSR1lrWQ0130_assertion SIO_000772 14592816 NP257547.RAj6V0x3LcSmYgFusnP3CndcBJsBRlSTceY1SSR1lrWQ0130_provenance.
- NP257547.RAj6V0x3LcSmYgFusnP3CndcBJsBRlSTceY1SSR1lrWQ0130_assertion wasDerivedFrom befree-20150227 NP257547.RAj6V0x3LcSmYgFusnP3CndcBJsBRlSTceY1SSR1lrWQ0130_provenance.
- NP257547.RAj6V0x3LcSmYgFusnP3CndcBJsBRlSTceY1SSR1lrWQ0130_assertion wasGeneratedBy ECO_0000203 NP257547.RAj6V0x3LcSmYgFusnP3CndcBJsBRlSTceY1SSR1lrWQ0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP257547.RAj6V0x3LcSmYgFusnP3CndcBJsBRlSTceY1SSR1lrWQ0130_provenance.