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- source_evidence_literature type ECO_0000212 NP929144.RAhvb1MqrKYQISSvvY-8DeUkZflU5E_qqOOo1fi1Jncy8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP929144.RAhvb1MqrKYQISSvvY-8DeUkZflU5E_qqOOo1fi1Jncy8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP929144.RAhvb1MqrKYQISSvvY-8DeUkZflU5E_qqOOo1fi1Jncy8130_provenance.
- NP929144.RAhvb1MqrKYQISSvvY-8DeUkZflU5E_qqOOo1fi1Jncy8130_assertion description "[Mutations of the selenoprotein N gene (SEPN1) cause SEPN1-related myopathy (SEPN1-RM), a novel early-onset muscle disorder formerly divided into four different nosological categories.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP929144.RAhvb1MqrKYQISSvvY-8DeUkZflU5E_qqOOo1fi1Jncy8130_provenance.
- NP929144.RAhvb1MqrKYQISSvvY-8DeUkZflU5E_qqOOo1fi1Jncy8130_assertion evidence source_evidence_literature NP929144.RAhvb1MqrKYQISSvvY-8DeUkZflU5E_qqOOo1fi1Jncy8130_provenance.
- NP929144.RAhvb1MqrKYQISSvvY-8DeUkZflU5E_qqOOo1fi1Jncy8130_assertion SIO_000772 19557870 NP929144.RAhvb1MqrKYQISSvvY-8DeUkZflU5E_qqOOo1fi1Jncy8130_provenance.
- NP929144.RAhvb1MqrKYQISSvvY-8DeUkZflU5E_qqOOo1fi1Jncy8130_assertion wasDerivedFrom befree-20150227 NP929144.RAhvb1MqrKYQISSvvY-8DeUkZflU5E_qqOOo1fi1Jncy8130_provenance.
- NP929144.RAhvb1MqrKYQISSvvY-8DeUkZflU5E_qqOOo1fi1Jncy8130_assertion wasGeneratedBy ECO_0000203 NP929144.RAhvb1MqrKYQISSvvY-8DeUkZflU5E_qqOOo1fi1Jncy8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP929144.RAhvb1MqrKYQISSvvY-8DeUkZflU5E_qqOOo1fi1Jncy8130_provenance.