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- source_evidence_literature type ECO_0000212 NP532163.RAi_VW4Y49bnB0exHth-evKMcOXlPWVmBeUYOa2CPnp4c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP532163.RAi_VW4Y49bnB0exHth-evKMcOXlPWVmBeUYOa2CPnp4c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP532163.RAi_VW4Y49bnB0exHth-evKMcOXlPWVmBeUYOa2CPnp4c130_provenance.
- NP532163.RAi_VW4Y49bnB0exHth-evKMcOXlPWVmBeUYOa2CPnp4c130_assertion description "[Mutations in the BSCL2 gene have recently been identified in families with (SPG17-linked) Silver syndrome-type hereditary spastic paraparesis as well as in families with distal hereditary motor neuropathy (HMN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP532163.RAi_VW4Y49bnB0exHth-evKMcOXlPWVmBeUYOa2CPnp4c130_provenance.
- NP532163.RAi_VW4Y49bnB0exHth-evKMcOXlPWVmBeUYOa2CPnp4c130_assertion evidence source_evidence_literature NP532163.RAi_VW4Y49bnB0exHth-evKMcOXlPWVmBeUYOa2CPnp4c130_provenance.
- NP532163.RAi_VW4Y49bnB0exHth-evKMcOXlPWVmBeUYOa2CPnp4c130_assertion SIO_000772 16427281 NP532163.RAi_VW4Y49bnB0exHth-evKMcOXlPWVmBeUYOa2CPnp4c130_provenance.
- NP532163.RAi_VW4Y49bnB0exHth-evKMcOXlPWVmBeUYOa2CPnp4c130_assertion wasDerivedFrom befree-2016 NP532163.RAi_VW4Y49bnB0exHth-evKMcOXlPWVmBeUYOa2CPnp4c130_provenance.
- NP532163.RAi_VW4Y49bnB0exHth-evKMcOXlPWVmBeUYOa2CPnp4c130_assertion wasGeneratedBy ECO_0000203 NP532163.RAi_VW4Y49bnB0exHth-evKMcOXlPWVmBeUYOa2CPnp4c130_provenance.
- befree-2016 importedOn "2016-02-19" NP532163.RAi_VW4Y49bnB0exHth-evKMcOXlPWVmBeUYOa2CPnp4c130_provenance.