Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_assertion> ?p ?o ?g. }
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- NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_assertion type Assertion NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_head.
- NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_assertion description "[A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance.
- NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_assertion evidence source_evidence_literature NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance.
- NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_assertion SIO_000772 24095819 NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance.
- NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_assertion wasDerivedFrom befree-2016 NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance.
- NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_assertion wasGeneratedBy ECO_0000203 NP1116298.RAosria_c1pdaRKgmU58x2HqWk8T9R5lQB3LNTOaQrPxg130_provenance.