Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_assertion> ?p ?o ?g. }
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- NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_assertion type Assertion NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_head.
- NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_assertion description "[Mutations within CLCN1, the gene encoding the major skeletal muscle chloride channel, cause either dominant Thomsen disease or recessive Becker-type myotonia, which are sometimes difficult to discriminate, because of reduced penetrance or lower clinical expressivity in females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_provenance.
- NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_assertion evidence source_evidence_curated NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_provenance.
- NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_assertion SIO_000772 8571958 NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_provenance.
- NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_assertion wasDerivedFrom uniprot-20130724 NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_provenance.
- NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_assertion wasGeneratedBy ECO_0000218 NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_provenance.