Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_provenance.
- NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_assertion description "[Homozygous mutations in WWOX were reported in eight individuals of two families with autosomal recessive spinocerebellar ataxia type 12 and in two siblings with infantile epileptic encephalopathy (IEE), including one who deceased prior to DNA sampling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_provenance.
- NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_assertion evidence source_evidence_literature NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_provenance.
- NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_assertion SIO_000772 25411445 NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_provenance.
- NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_assertion wasDerivedFrom befree-2016 NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_provenance.
- NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_assertion wasGeneratedBy ECO_0000203 NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_provenance.
- befree-2016 importedOn "2016-02-19" NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_provenance.