Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP199386.RASFPV4so5bS1l7ANtYATehsFMo-SX1l9aOJVhj5AXF6Y130_assertion> ?p ?o ?g. }
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- NP199386.RASFPV4so5bS1l7ANtYATehsFMo-SX1l9aOJVhj5AXF6Y130_assertion type Assertion NP199386.RASFPV4so5bS1l7ANtYATehsFMo-SX1l9aOJVhj5AXF6Y130_head.
- NP199386.RASFPV4so5bS1l7ANtYATehsFMo-SX1l9aOJVhj5AXF6Y130_assertion description "[We found a homozygous SLC17A5 mutation (R39C) in five Finnish patients with Salla disease and six different SLC17A5 mutations in six ISSD patients of different ethnic origins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP199386.RASFPV4so5bS1l7ANtYATehsFMo-SX1l9aOJVhj5AXF6Y130_provenance.
- NP199386.RASFPV4so5bS1l7ANtYATehsFMo-SX1l9aOJVhj5AXF6Y130_assertion evidence source_evidence_literature NP199386.RASFPV4so5bS1l7ANtYATehsFMo-SX1l9aOJVhj5AXF6Y130_provenance.
- NP199386.RASFPV4so5bS1l7ANtYATehsFMo-SX1l9aOJVhj5AXF6Y130_assertion SIO_000772 10581036 NP199386.RASFPV4so5bS1l7ANtYATehsFMo-SX1l9aOJVhj5AXF6Y130_provenance.
- NP199386.RASFPV4so5bS1l7ANtYATehsFMo-SX1l9aOJVhj5AXF6Y130_assertion wasDerivedFrom befree-20140225 NP199386.RASFPV4so5bS1l7ANtYATehsFMo-SX1l9aOJVhj5AXF6Y130_provenance.
- NP199386.RASFPV4so5bS1l7ANtYATehsFMo-SX1l9aOJVhj5AXF6Y130_assertion wasGeneratedBy ECO_0000203 NP199386.RASFPV4so5bS1l7ANtYATehsFMo-SX1l9aOJVhj5AXF6Y130_provenance.