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- source_evidence_literature type ECO_0000212 NP425236.RAD8UmLTUTObvV9z8n-X8p3tmJkLLmA2BZAlGgcxLY2f4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP425236.RAD8UmLTUTObvV9z8n-X8p3tmJkLLmA2BZAlGgcxLY2f4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP425236.RAD8UmLTUTObvV9z8n-X8p3tmJkLLmA2BZAlGgcxLY2f4130_provenance.
- NP425236.RAD8UmLTUTObvV9z8n-X8p3tmJkLLmA2BZAlGgcxLY2f4130_assertion description "[Although the majority of cases (65%) are sporadic, genetic linkage studies of familial cases led to the discovery of two separate genes linked to tuberous sclerosis complex: TSC1, located at chromosome 9q34, encoding a protein called hamartin; and TSC2, located at chromosome 16p13.3, encoding a protein called tuberin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP425236.RAD8UmLTUTObvV9z8n-X8p3tmJkLLmA2BZAlGgcxLY2f4130_provenance.
- NP425236.RAD8UmLTUTObvV9z8n-X8p3tmJkLLmA2BZAlGgcxLY2f4130_assertion evidence source_evidence_literature NP425236.RAD8UmLTUTObvV9z8n-X8p3tmJkLLmA2BZAlGgcxLY2f4130_provenance.
- NP425236.RAD8UmLTUTObvV9z8n-X8p3tmJkLLmA2BZAlGgcxLY2f4130_assertion SIO_000772 14684235 NP425236.RAD8UmLTUTObvV9z8n-X8p3tmJkLLmA2BZAlGgcxLY2f4130_provenance.
- NP425236.RAD8UmLTUTObvV9z8n-X8p3tmJkLLmA2BZAlGgcxLY2f4130_assertion wasDerivedFrom befree-2016 NP425236.RAD8UmLTUTObvV9z8n-X8p3tmJkLLmA2BZAlGgcxLY2f4130_provenance.
- NP425236.RAD8UmLTUTObvV9z8n-X8p3tmJkLLmA2BZAlGgcxLY2f4130_assertion wasGeneratedBy ECO_0000203 NP425236.RAD8UmLTUTObvV9z8n-X8p3tmJkLLmA2BZAlGgcxLY2f4130_provenance.
- befree-2016 importedOn "2016-02-19" NP425236.RAD8UmLTUTObvV9z8n-X8p3tmJkLLmA2BZAlGgcxLY2f4130_provenance.