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- source_evidence_literature type ECO_0000212 NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_provenance.
- NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_assertion description "[Mutations in the gene coding for the transmembrane receptor protein Patched (PTCH) are implicated in the autosomal dominant disorder Gorlin syndrome (also known as naevoid basal cell carcinoma syndrome), characterized by congenital abnormalities and cancer predisposition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_provenance.
- NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_assertion evidence source_evidence_literature NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_provenance.
- NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_assertion SIO_000772 18476955 NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_provenance.
- NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_assertion wasDerivedFrom befree-2016 NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_provenance.
- NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_assertion wasGeneratedBy ECO_0000203 NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_provenance.
- befree-2016 importedOn "2016-02-19" NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_provenance.