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- source_evidence_literature type ECO_0000212 NP576475.RAZIlL2FkdZmrC_vbkN_HiE8WhiSqFI5IMjqcsJ_iglCI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP576475.RAZIlL2FkdZmrC_vbkN_HiE8WhiSqFI5IMjqcsJ_iglCI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP576475.RAZIlL2FkdZmrC_vbkN_HiE8WhiSqFI5IMjqcsJ_iglCI130_provenance.
- NP576475.RAZIlL2FkdZmrC_vbkN_HiE8WhiSqFI5IMjqcsJ_iglCI130_assertion description "[An autosomal dominant form of CNM results from mutations in the gene encoding dynamin 2 (DNM2), and loss-of-function mutations in the gene encoding myotubularin (MTM1) result in X-linked CNM (XLCNM, also called myotubular myopathy), which promotes severe neonatal hypotonia and early death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP576475.RAZIlL2FkdZmrC_vbkN_HiE8WhiSqFI5IMjqcsJ_iglCI130_provenance.
- NP576475.RAZIlL2FkdZmrC_vbkN_HiE8WhiSqFI5IMjqcsJ_iglCI130_assertion evidence source_evidence_literature NP576475.RAZIlL2FkdZmrC_vbkN_HiE8WhiSqFI5IMjqcsJ_iglCI130_provenance.
- NP576475.RAZIlL2FkdZmrC_vbkN_HiE8WhiSqFI5IMjqcsJ_iglCI130_assertion SIO_000772 24569376 NP576475.RAZIlL2FkdZmrC_vbkN_HiE8WhiSqFI5IMjqcsJ_iglCI130_provenance.
- NP576475.RAZIlL2FkdZmrC_vbkN_HiE8WhiSqFI5IMjqcsJ_iglCI130_assertion wasDerivedFrom befree-20150227 NP576475.RAZIlL2FkdZmrC_vbkN_HiE8WhiSqFI5IMjqcsJ_iglCI130_provenance.
- NP576475.RAZIlL2FkdZmrC_vbkN_HiE8WhiSqFI5IMjqcsJ_iglCI130_assertion wasGeneratedBy ECO_0000203 NP576475.RAZIlL2FkdZmrC_vbkN_HiE8WhiSqFI5IMjqcsJ_iglCI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP576475.RAZIlL2FkdZmrC_vbkN_HiE8WhiSqFI5IMjqcsJ_iglCI130_provenance.