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- source_evidence_literature type ECO_0000212 NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_provenance.
- NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_assertion description "[Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_provenance.
- NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_assertion evidence source_evidence_literature NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_provenance.
- NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_assertion SIO_000772 20170900 NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_provenance.
- NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_assertion wasDerivedFrom befree-2016 NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_provenance.
- NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_assertion wasGeneratedBy ECO_0000203 NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_provenance.