Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP355941.RAhQdTOaVb1zG0sGKVNRbttqqWbz-TMEPyOHdtqha3Rng130_assertion> ?p ?o ?g. }
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- NP355941.RAhQdTOaVb1zG0sGKVNRbttqqWbz-TMEPyOHdtqha3Rng130_assertion type Assertion NP355941.RAhQdTOaVb1zG0sGKVNRbttqqWbz-TMEPyOHdtqha3Rng130_head.
- NP355941.RAhQdTOaVb1zG0sGKVNRbttqqWbz-TMEPyOHdtqha3Rng130_assertion description "[A CTG repeat element normally resides in the 3' untranslated region of the dystrophia myotonica-protein kinase (DMPK) gene, but when expanded it is the genetic lesion of myotonic dystrophy type 1 (DM1), a hereditary neuromuscular disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP355941.RAhQdTOaVb1zG0sGKVNRbttqqWbz-TMEPyOHdtqha3Rng130_provenance.
- NP355941.RAhQdTOaVb1zG0sGKVNRbttqqWbz-TMEPyOHdtqha3Rng130_assertion evidence source_evidence_literature NP355941.RAhQdTOaVb1zG0sGKVNRbttqqWbz-TMEPyOHdtqha3Rng130_provenance.
- NP355941.RAhQdTOaVb1zG0sGKVNRbttqqWbz-TMEPyOHdtqha3Rng130_assertion SIO_000772 23308382 NP355941.RAhQdTOaVb1zG0sGKVNRbttqqWbz-TMEPyOHdtqha3Rng130_provenance.
- NP355941.RAhQdTOaVb1zG0sGKVNRbttqqWbz-TMEPyOHdtqha3Rng130_assertion wasDerivedFrom befree-20150227 NP355941.RAhQdTOaVb1zG0sGKVNRbttqqWbz-TMEPyOHdtqha3Rng130_provenance.
- NP355941.RAhQdTOaVb1zG0sGKVNRbttqqWbz-TMEPyOHdtqha3Rng130_assertion wasGeneratedBy ECO_0000203 NP355941.RAhQdTOaVb1zG0sGKVNRbttqqWbz-TMEPyOHdtqha3Rng130_provenance.