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- source_evidence_literature type ECO_0000212 NP747381.RAP_CSYsjGikB678UwYSzxF3tgQefY15dvVBroicbSM_A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP747381.RAP_CSYsjGikB678UwYSzxF3tgQefY15dvVBroicbSM_A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP747381.RAP_CSYsjGikB678UwYSzxF3tgQefY15dvVBroicbSM_A130_provenance.
- NP747381.RAP_CSYsjGikB678UwYSzxF3tgQefY15dvVBroicbSM_A130_assertion description "[A disruption of sorting nexin 3 (SNX3) on 6q21 was previously reported in a patient with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and t(6;13)(q21;q12) but no SNX3 mutations were identified in another sporadic case of MMEP, suggesting involvement of another gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP747381.RAP_CSYsjGikB678UwYSzxF3tgQefY15dvVBroicbSM_A130_provenance.
- NP747381.RAP_CSYsjGikB678UwYSzxF3tgQefY15dvVBroicbSM_A130_assertion evidence source_evidence_literature NP747381.RAP_CSYsjGikB678UwYSzxF3tgQefY15dvVBroicbSM_A130_provenance.
- NP747381.RAP_CSYsjGikB678UwYSzxF3tgQefY15dvVBroicbSM_A130_assertion SIO_000772 17655765 NP747381.RAP_CSYsjGikB678UwYSzxF3tgQefY15dvVBroicbSM_A130_provenance.
- NP747381.RAP_CSYsjGikB678UwYSzxF3tgQefY15dvVBroicbSM_A130_assertion wasDerivedFrom befree-20140225 NP747381.RAP_CSYsjGikB678UwYSzxF3tgQefY15dvVBroicbSM_A130_provenance.
- NP747381.RAP_CSYsjGikB678UwYSzxF3tgQefY15dvVBroicbSM_A130_assertion wasGeneratedBy ECO_0000203 NP747381.RAP_CSYsjGikB678UwYSzxF3tgQefY15dvVBroicbSM_A130_provenance.
- befree-20140225 importedOn "2014-02-25" NP747381.RAP_CSYsjGikB678UwYSzxF3tgQefY15dvVBroicbSM_A130_provenance.