Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP691636.RAnJCxAGEsyg4pQY3yvzJGmCfE39Ly94uD-XCVLWHazGI130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP691636.RAnJCxAGEsyg4pQY3yvzJGmCfE39Ly94uD-XCVLWHazGI130_assertion type Assertion NP691636.RAnJCxAGEsyg4pQY3yvzJGmCfE39Ly94uD-XCVLWHazGI130_head.
- NP691636.RAnJCxAGEsyg4pQY3yvzJGmCfE39Ly94uD-XCVLWHazGI130_assertion description "[In this paper, we report that six children with GSD IIIA from the Faroe Islands were found to be homozygous for the novel nonsense mutation c.1222C>T (R408X) of the AGL gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP691636.RAnJCxAGEsyg4pQY3yvzJGmCfE39Ly94uD-XCVLWHazGI130_provenance.
- NP691636.RAnJCxAGEsyg4pQY3yvzJGmCfE39Ly94uD-XCVLWHazGI130_assertion evidence source_evidence_literature NP691636.RAnJCxAGEsyg4pQY3yvzJGmCfE39Ly94uD-XCVLWHazGI130_provenance.
- NP691636.RAnJCxAGEsyg4pQY3yvzJGmCfE39Ly94uD-XCVLWHazGI130_assertion SIO_000772 11378828 NP691636.RAnJCxAGEsyg4pQY3yvzJGmCfE39Ly94uD-XCVLWHazGI130_provenance.
- NP691636.RAnJCxAGEsyg4pQY3yvzJGmCfE39Ly94uD-XCVLWHazGI130_assertion wasDerivedFrom befree-20140225 NP691636.RAnJCxAGEsyg4pQY3yvzJGmCfE39Ly94uD-XCVLWHazGI130_provenance.
- NP691636.RAnJCxAGEsyg4pQY3yvzJGmCfE39Ly94uD-XCVLWHazGI130_assertion wasGeneratedBy ECO_0000203 NP691636.RAnJCxAGEsyg4pQY3yvzJGmCfE39Ly94uD-XCVLWHazGI130_provenance.