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- source_evidence_literature type ECO_0000212 NP676939.RAPouADzeNYe216sBAedEZ_NwoGblNY6ZbqBrboui-lo8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP676939.RAPouADzeNYe216sBAedEZ_NwoGblNY6ZbqBrboui-lo8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP676939.RAPouADzeNYe216sBAedEZ_NwoGblNY6ZbqBrboui-lo8130_provenance.
- NP676939.RAPouADzeNYe216sBAedEZ_NwoGblNY6ZbqBrboui-lo8130_assertion description "[Mutations in RYR1 are associated with several congenital myopathies (termed RYR1-related myopathies) that are the most common non-dystrophic muscle diseases of childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP676939.RAPouADzeNYe216sBAedEZ_NwoGblNY6ZbqBrboui-lo8130_provenance.
- NP676939.RAPouADzeNYe216sBAedEZ_NwoGblNY6ZbqBrboui-lo8130_assertion evidence source_evidence_literature NP676939.RAPouADzeNYe216sBAedEZ_NwoGblNY6ZbqBrboui-lo8130_provenance.
- NP676939.RAPouADzeNYe216sBAedEZ_NwoGblNY6ZbqBrboui-lo8130_assertion SIO_000772 22418739 NP676939.RAPouADzeNYe216sBAedEZ_NwoGblNY6ZbqBrboui-lo8130_provenance.
- NP676939.RAPouADzeNYe216sBAedEZ_NwoGblNY6ZbqBrboui-lo8130_assertion wasDerivedFrom befree-20150227 NP676939.RAPouADzeNYe216sBAedEZ_NwoGblNY6ZbqBrboui-lo8130_provenance.
- NP676939.RAPouADzeNYe216sBAedEZ_NwoGblNY6ZbqBrboui-lo8130_assertion wasGeneratedBy ECO_0000203 NP676939.RAPouADzeNYe216sBAedEZ_NwoGblNY6ZbqBrboui-lo8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP676939.RAPouADzeNYe216sBAedEZ_NwoGblNY6ZbqBrboui-lo8130_provenance.