Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_provenance.
- NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_assertion description "[This report describes a patient with thalassemia intermedia-like phenotype born to normal parents in whom globin gene sequencing detected a novel abnormal hemoglobin (Hb) due to a T to A substitution at codon 60 of the beta-globin gene arising as a de novo mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_provenance.
- NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_assertion evidence source_evidence_literature NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_provenance.
- NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_assertion SIO_000772 1985702 NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_provenance.
- NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_assertion wasDerivedFrom befree-2016 NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_provenance.
- NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_assertion wasGeneratedBy ECO_0000203 NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_provenance.
- befree-2016 importedOn "2016-02-19" NP771713.RABXZAHFIB9drSH8vOPs5KAtOexo5o1ZO3Qvfcpz90lq0130_provenance.