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- source_evidence_literature type ECO_0000212 NP1134074.RApn-e7B_X0capXwUFrVCU0HlQnfoQN-Nof_OxmMVI8ns130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1134074.RApn-e7B_X0capXwUFrVCU0HlQnfoQN-Nof_OxmMVI8ns130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1134074.RApn-e7B_X0capXwUFrVCU0HlQnfoQN-Nof_OxmMVI8ns130_provenance.
- NP1134074.RApn-e7B_X0capXwUFrVCU0HlQnfoQN-Nof_OxmMVI8ns130_assertion description "[Mutations in DYNC1H1 have been described in autosomal-dominant Charcot-Marie-Tooth type 2 and in families with distal spinal muscular atrophy (SMA) predominantly affecting the legs (SMA-LED).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1134074.RApn-e7B_X0capXwUFrVCU0HlQnfoQN-Nof_OxmMVI8ns130_provenance.
- NP1134074.RApn-e7B_X0capXwUFrVCU0HlQnfoQN-Nof_OxmMVI8ns130_assertion evidence source_evidence_literature NP1134074.RApn-e7B_X0capXwUFrVCU0HlQnfoQN-Nof_OxmMVI8ns130_provenance.
- NP1134074.RApn-e7B_X0capXwUFrVCU0HlQnfoQN-Nof_OxmMVI8ns130_assertion SIO_000772 24307404 NP1134074.RApn-e7B_X0capXwUFrVCU0HlQnfoQN-Nof_OxmMVI8ns130_provenance.
- NP1134074.RApn-e7B_X0capXwUFrVCU0HlQnfoQN-Nof_OxmMVI8ns130_assertion wasDerivedFrom befree-2016 NP1134074.RApn-e7B_X0capXwUFrVCU0HlQnfoQN-Nof_OxmMVI8ns130_provenance.
- NP1134074.RApn-e7B_X0capXwUFrVCU0HlQnfoQN-Nof_OxmMVI8ns130_assertion wasGeneratedBy ECO_0000203 NP1134074.RApn-e7B_X0capXwUFrVCU0HlQnfoQN-Nof_OxmMVI8ns130_provenance.
- befree-2016 importedOn "2016-02-19" NP1134074.RApn-e7B_X0capXwUFrVCU0HlQnfoQN-Nof_OxmMVI8ns130_provenance.