Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP476704.RACq6iT0xxDQ6G1U-MzrHnGkGI0WLlvtnTTlWlaKOpNAg130_assertion> ?p ?o ?g. }
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- NP476704.RACq6iT0xxDQ6G1U-MzrHnGkGI0WLlvtnTTlWlaKOpNAg130_assertion type Assertion NP476704.RACq6iT0xxDQ6G1U-MzrHnGkGI0WLlvtnTTlWlaKOpNAg130_head.
- NP476704.RACq6iT0xxDQ6G1U-MzrHnGkGI0WLlvtnTTlWlaKOpNAg130_assertion description "[Since the identification more than a decade ago of the genetic causes of episodic ataxia type 1 with myokymia caused by KCNA1 mutations and episodic ataxia type 2 with nystagmus caused by CACNA1A mutations, the list of episodic ataxia syndromes with distinct clinical features and genetic loci is slowly expanding, now up to episodic ataxia type 7.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP476704.RACq6iT0xxDQ6G1U-MzrHnGkGI0WLlvtnTTlWlaKOpNAg130_provenance.
- NP476704.RACq6iT0xxDQ6G1U-MzrHnGkGI0WLlvtnTTlWlaKOpNAg130_assertion evidence source_evidence_literature NP476704.RACq6iT0xxDQ6G1U-MzrHnGkGI0WLlvtnTTlWlaKOpNAg130_provenance.
- NP476704.RACq6iT0xxDQ6G1U-MzrHnGkGI0WLlvtnTTlWlaKOpNAg130_assertion SIO_000772 18180645 NP476704.RACq6iT0xxDQ6G1U-MzrHnGkGI0WLlvtnTTlWlaKOpNAg130_provenance.
- NP476704.RACq6iT0xxDQ6G1U-MzrHnGkGI0WLlvtnTTlWlaKOpNAg130_assertion wasDerivedFrom befree-20140225 NP476704.RACq6iT0xxDQ6G1U-MzrHnGkGI0WLlvtnTTlWlaKOpNAg130_provenance.
- NP476704.RACq6iT0xxDQ6G1U-MzrHnGkGI0WLlvtnTTlWlaKOpNAg130_assertion wasGeneratedBy ECO_0000203 NP476704.RACq6iT0xxDQ6G1U-MzrHnGkGI0WLlvtnTTlWlaKOpNAg130_provenance.