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- source_evidence_literature type ECO_0000212 NP718536.RAMGGE-H2zHZgc9cAV5EuduLx-cqbWIg3CDIkmkHh5gS4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP718536.RAMGGE-H2zHZgc9cAV5EuduLx-cqbWIg3CDIkmkHh5gS4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP718536.RAMGGE-H2zHZgc9cAV5EuduLx-cqbWIg3CDIkmkHh5gS4130_provenance.
- NP718536.RAMGGE-H2zHZgc9cAV5EuduLx-cqbWIg3CDIkmkHh5gS4130_assertion description "[Urinary and plasma amines and amine metabolites were quantified in two individuals with Norrie disease resulting from a deletion in chromosomal region Xp11.3, recently reported to be associated with absence of the gene encoding monoamine oxidase (MAO)-A and nondetectable MAO-A activity in fibroblasts and MAO-B activity in platelets.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP718536.RAMGGE-H2zHZgc9cAV5EuduLx-cqbWIg3CDIkmkHh5gS4130_provenance.
- NP718536.RAMGGE-H2zHZgc9cAV5EuduLx-cqbWIg3CDIkmkHh5gS4130_assertion evidence source_evidence_literature NP718536.RAMGGE-H2zHZgc9cAV5EuduLx-cqbWIg3CDIkmkHh5gS4130_provenance.
- NP718536.RAMGGE-H2zHZgc9cAV5EuduLx-cqbWIg3CDIkmkHh5gS4130_assertion SIO_000772 2293615 NP718536.RAMGGE-H2zHZgc9cAV5EuduLx-cqbWIg3CDIkmkHh5gS4130_provenance.
- NP718536.RAMGGE-H2zHZgc9cAV5EuduLx-cqbWIg3CDIkmkHh5gS4130_assertion wasDerivedFrom befree-20140225 NP718536.RAMGGE-H2zHZgc9cAV5EuduLx-cqbWIg3CDIkmkHh5gS4130_provenance.
- NP718536.RAMGGE-H2zHZgc9cAV5EuduLx-cqbWIg3CDIkmkHh5gS4130_assertion wasGeneratedBy ECO_0000203 NP718536.RAMGGE-H2zHZgc9cAV5EuduLx-cqbWIg3CDIkmkHh5gS4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP718536.RAMGGE-H2zHZgc9cAV5EuduLx-cqbWIg3CDIkmkHh5gS4130_provenance.