Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP506697.RA-PkLIMY4jF8zbahkWvimqj1H4hHSs_B18PCLX8qeQLI130_assertion> ?p ?o ?g. }
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- NP506697.RA-PkLIMY4jF8zbahkWvimqj1H4hHSs_B18PCLX8qeQLI130_assertion type Assertion NP506697.RA-PkLIMY4jF8zbahkWvimqj1H4hHSs_B18PCLX8qeQLI130_head.
- NP506697.RA-PkLIMY4jF8zbahkWvimqj1H4hHSs_B18PCLX8qeQLI130_assertion wasGeneratedBy ECO_0000203 NP506697.RA-PkLIMY4jF8zbahkWvimqj1H4hHSs_B18PCLX8qeQLI130_provenance.
- NP506697.RA-PkLIMY4jF8zbahkWvimqj1H4hHSs_B18PCLX8qeQLI130_assertion wasDerivedFrom befree-2016 NP506697.RA-PkLIMY4jF8zbahkWvimqj1H4hHSs_B18PCLX8qeQLI130_provenance.
- NP506697.RA-PkLIMY4jF8zbahkWvimqj1H4hHSs_B18PCLX8qeQLI130_assertion SIO_000772 16060937 NP506697.RA-PkLIMY4jF8zbahkWvimqj1H4hHSs_B18PCLX8qeQLI130_provenance.
- NP506697.RA-PkLIMY4jF8zbahkWvimqj1H4hHSs_B18PCLX8qeQLI130_assertion evidence source_evidence_literature NP506697.RA-PkLIMY4jF8zbahkWvimqj1H4hHSs_B18PCLX8qeQLI130_provenance.
- NP506697.RA-PkLIMY4jF8zbahkWvimqj1H4hHSs_B18PCLX8qeQLI130_assertion description "[Choreoacanthocytosis (ChAc) is an autosomal recessive disorder caused by mutations in VPS13A on chromosome 9q21 and characterized by neurodegeneration and red cell acanthocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP506697.RA-PkLIMY4jF8zbahkWvimqj1H4hHSs_B18PCLX8qeQLI130_provenance.