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- source_evidence_literature type ECO_0000212 NP463536.RAX07qXwaiA5L5Sf6EwxOFa6fPo28YmBembaMxYjpUUv8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP463536.RAX07qXwaiA5L5Sf6EwxOFa6fPo28YmBembaMxYjpUUv8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP463536.RAX07qXwaiA5L5Sf6EwxOFa6fPo28YmBembaMxYjpUUv8130_provenance.
- NP463536.RAX07qXwaiA5L5Sf6EwxOFa6fPo28YmBembaMxYjpUUv8130_assertion description "[Gain-of-function RET mutations are responsible for multiple endocrine neoplasia syndromes (MEN) 2A and 2B and familial medullary thyroid carcinoma (FMTC), whereas loss-of-function mutations are found in Hirschsprung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP463536.RAX07qXwaiA5L5Sf6EwxOFa6fPo28YmBembaMxYjpUUv8130_provenance.
- NP463536.RAX07qXwaiA5L5Sf6EwxOFa6fPo28YmBembaMxYjpUUv8130_assertion evidence source_evidence_literature NP463536.RAX07qXwaiA5L5Sf6EwxOFa6fPo28YmBembaMxYjpUUv8130_provenance.
- NP463536.RAX07qXwaiA5L5Sf6EwxOFa6fPo28YmBembaMxYjpUUv8130_assertion SIO_000772 15472167 NP463536.RAX07qXwaiA5L5Sf6EwxOFa6fPo28YmBembaMxYjpUUv8130_provenance.
- NP463536.RAX07qXwaiA5L5Sf6EwxOFa6fPo28YmBembaMxYjpUUv8130_assertion wasDerivedFrom befree-2016 NP463536.RAX07qXwaiA5L5Sf6EwxOFa6fPo28YmBembaMxYjpUUv8130_provenance.
- NP463536.RAX07qXwaiA5L5Sf6EwxOFa6fPo28YmBembaMxYjpUUv8130_assertion wasGeneratedBy ECO_0000203 NP463536.RAX07qXwaiA5L5Sf6EwxOFa6fPo28YmBembaMxYjpUUv8130_provenance.
- befree-2016 importedOn "2016-02-19" NP463536.RAX07qXwaiA5L5Sf6EwxOFa6fPo28YmBembaMxYjpUUv8130_provenance.