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- source_evidence_literature type ECO_0000212 NP314611.RAgDNsV1bhM-mW7pzbM3h7zJ1CX8UJ0v7jFDBSa3-_6Gg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP314611.RAgDNsV1bhM-mW7pzbM3h7zJ1CX8UJ0v7jFDBSa3-_6Gg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP314611.RAgDNsV1bhM-mW7pzbM3h7zJ1CX8UJ0v7jFDBSa3-_6Gg130_provenance.
- NP314611.RAgDNsV1bhM-mW7pzbM3h7zJ1CX8UJ0v7jFDBSa3-_6Gg130_assertion description "[Escobar syndrome has been recently described as a prenatal form of myasthenia associated with recessive mutations in genes of the neuromuscular junction (CHRNG, CHRNA1, CHRND, RAPSN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP314611.RAgDNsV1bhM-mW7pzbM3h7zJ1CX8UJ0v7jFDBSa3-_6Gg130_provenance.
- NP314611.RAgDNsV1bhM-mW7pzbM3h7zJ1CX8UJ0v7jFDBSa3-_6Gg130_assertion evidence source_evidence_literature NP314611.RAgDNsV1bhM-mW7pzbM3h7zJ1CX8UJ0v7jFDBSa3-_6Gg130_provenance.
- NP314611.RAgDNsV1bhM-mW7pzbM3h7zJ1CX8UJ0v7jFDBSa3-_6Gg130_assertion SIO_000772 19155175 NP314611.RAgDNsV1bhM-mW7pzbM3h7zJ1CX8UJ0v7jFDBSa3-_6Gg130_provenance.
- NP314611.RAgDNsV1bhM-mW7pzbM3h7zJ1CX8UJ0v7jFDBSa3-_6Gg130_assertion wasDerivedFrom befree-20150227 NP314611.RAgDNsV1bhM-mW7pzbM3h7zJ1CX8UJ0v7jFDBSa3-_6Gg130_provenance.
- NP314611.RAgDNsV1bhM-mW7pzbM3h7zJ1CX8UJ0v7jFDBSa3-_6Gg130_assertion wasGeneratedBy ECO_0000203 NP314611.RAgDNsV1bhM-mW7pzbM3h7zJ1CX8UJ0v7jFDBSa3-_6Gg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP314611.RAgDNsV1bhM-mW7pzbM3h7zJ1CX8UJ0v7jFDBSa3-_6Gg130_provenance.