Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_assertion> ?p ?o ?g. }
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- NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_assertion type Assertion NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_head.
- 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.