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- source_evidence_literature type ECO_0000212 NP500155.RA3y4h3s-d35Q4X_9Xz-c31A7LXvYBJX_4EnnPwnuN7d4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP500155.RA3y4h3s-d35Q4X_9Xz-c31A7LXvYBJX_4EnnPwnuN7d4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP500155.RA3y4h3s-d35Q4X_9Xz-c31A7LXvYBJX_4EnnPwnuN7d4130_provenance.
- befree-2016 importedOn "2016-02-19" NP500155.RA3y4h3s-d35Q4X_9Xz-c31A7LXvYBJX_4EnnPwnuN7d4130_provenance.
- NP500155.RA3y4h3s-d35Q4X_9Xz-c31A7LXvYBJX_4EnnPwnuN7d4130_assertion wasGeneratedBy ECO_0000203 NP500155.RA3y4h3s-d35Q4X_9Xz-c31A7LXvYBJX_4EnnPwnuN7d4130_provenance.
- NP500155.RA3y4h3s-d35Q4X_9Xz-c31A7LXvYBJX_4EnnPwnuN7d4130_assertion wasDerivedFrom befree-2016 NP500155.RA3y4h3s-d35Q4X_9Xz-c31A7LXvYBJX_4EnnPwnuN7d4130_provenance.
- NP500155.RA3y4h3s-d35Q4X_9Xz-c31A7LXvYBJX_4EnnPwnuN7d4130_assertion SIO_000772 15965158 NP500155.RA3y4h3s-d35Q4X_9Xz-c31A7LXvYBJX_4EnnPwnuN7d4130_provenance.
- NP500155.RA3y4h3s-d35Q4X_9Xz-c31A7LXvYBJX_4EnnPwnuN7d4130_assertion evidence source_evidence_literature NP500155.RA3y4h3s-d35Q4X_9Xz-c31A7LXvYBJX_4EnnPwnuN7d4130_provenance.
- NP500155.RA3y4h3s-d35Q4X_9Xz-c31A7LXvYBJX_4EnnPwnuN7d4130_assertion description "[The data indicate that the novel mutation 640C>T in the OA1 gene is the primary cause of the eye disease in the family studied.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP500155.RA3y4h3s-d35Q4X_9Xz-c31A7LXvYBJX_4EnnPwnuN7d4130_provenance.