Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1003046.RAxUvbxzMhjoYxtewGJAmYI04j7WseLF5OS4GptNdcfks130_assertion> ?p ?o ?g. }
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- NP1003046.RAxUvbxzMhjoYxtewGJAmYI04j7WseLF5OS4GptNdcfks130_assertion type Assertion NP1003046.RAxUvbxzMhjoYxtewGJAmYI04j7WseLF5OS4GptNdcfks130_head.
- NP1003046.RAxUvbxzMhjoYxtewGJAmYI04j7WseLF5OS4GptNdcfks130_assertion description "[Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1003046.RAxUvbxzMhjoYxtewGJAmYI04j7WseLF5OS4GptNdcfks130_provenance.
- NP1003046.RAxUvbxzMhjoYxtewGJAmYI04j7WseLF5OS4GptNdcfks130_assertion evidence source_evidence_literature NP1003046.RAxUvbxzMhjoYxtewGJAmYI04j7WseLF5OS4GptNdcfks130_provenance.
- NP1003046.RAxUvbxzMhjoYxtewGJAmYI04j7WseLF5OS4GptNdcfks130_assertion SIO_000772 22867051 NP1003046.RAxUvbxzMhjoYxtewGJAmYI04j7WseLF5OS4GptNdcfks130_provenance.
- NP1003046.RAxUvbxzMhjoYxtewGJAmYI04j7WseLF5OS4GptNdcfks130_assertion wasDerivedFrom befree-2016 NP1003046.RAxUvbxzMhjoYxtewGJAmYI04j7WseLF5OS4GptNdcfks130_provenance.
- NP1003046.RAxUvbxzMhjoYxtewGJAmYI04j7WseLF5OS4GptNdcfks130_assertion wasGeneratedBy ECO_0000203 NP1003046.RAxUvbxzMhjoYxtewGJAmYI04j7WseLF5OS4GptNdcfks130_provenance.