Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_assertion> ?p ?o ?g. }
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- NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_assertion type Assertion NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_head.
- NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_assertion description "[A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance.
- NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_assertion evidence source_evidence_literature NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance.
- NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_assertion SIO_000772 25188413 NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance.
- NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_assertion wasDerivedFrom befree-2016 NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance.
- NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_assertion wasGeneratedBy ECO_0000203 NP1216777.RAhNSvaDxSkFwjl4fRmZZIPvHznmwtU5ROy8Gsgh3BvHI130_provenance.