Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_assertion> ?p ?o ?g. }
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- NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_assertion type Assertion NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_head.
- NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_assertion description "[Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance.
- NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_assertion evidence source_evidence_curated NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance.
- NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_assertion SIO_000772 9566422 NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance.
- NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_assertion wasDerivedFrom uniprot-2016 NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance.
- NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_assertion wasGeneratedBy ECO_0000218 NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance.