Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP503956.RAxLAjQh5ec-XO3OGeB7OH5z2Hmna1zwCzleEdVnDlPtg130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP503956.RAxLAjQh5ec-XO3OGeB7OH5z2Hmna1zwCzleEdVnDlPtg130_assertion type Assertion NP503956.RAxLAjQh5ec-XO3OGeB7OH5z2Hmna1zwCzleEdVnDlPtg130_head.
- NP503956.RAxLAjQh5ec-XO3OGeB7OH5z2Hmna1zwCzleEdVnDlPtg130_assertion description "[Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP503956.RAxLAjQh5ec-XO3OGeB7OH5z2Hmna1zwCzleEdVnDlPtg130_provenance.
- NP503956.RAxLAjQh5ec-XO3OGeB7OH5z2Hmna1zwCzleEdVnDlPtg130_assertion evidence source_evidence_literature NP503956.RAxLAjQh5ec-XO3OGeB7OH5z2Hmna1zwCzleEdVnDlPtg130_provenance.
- NP503956.RAxLAjQh5ec-XO3OGeB7OH5z2Hmna1zwCzleEdVnDlPtg130_assertion SIO_000772 16015284 NP503956.RAxLAjQh5ec-XO3OGeB7OH5z2Hmna1zwCzleEdVnDlPtg130_provenance.
- NP503956.RAxLAjQh5ec-XO3OGeB7OH5z2Hmna1zwCzleEdVnDlPtg130_assertion wasDerivedFrom befree-2016 NP503956.RAxLAjQh5ec-XO3OGeB7OH5z2Hmna1zwCzleEdVnDlPtg130_provenance.
- NP503956.RAxLAjQh5ec-XO3OGeB7OH5z2Hmna1zwCzleEdVnDlPtg130_assertion wasGeneratedBy ECO_0000203 NP503956.RAxLAjQh5ec-XO3OGeB7OH5z2Hmna1zwCzleEdVnDlPtg130_provenance.