Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP719999.RA7fMkik08wpwufH2sOZlQiF719pqGZs4SCGQZ9GzgNSg130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP719999.RA7fMkik08wpwufH2sOZlQiF719pqGZs4SCGQZ9GzgNSg130_assertion type Assertion NP719999.RA7fMkik08wpwufH2sOZlQiF719pqGZs4SCGQZ9GzgNSg130_head.
- NP719999.RA7fMkik08wpwufH2sOZlQiF719pqGZs4SCGQZ9GzgNSg130_assertion description "[A de novo 9q33.3-q34.11 microdeletion involving STXBP1 has been found in one of four individuals (group A) with early-onset West syndrome, severe hypomyelination, poor visual attention, and developmental delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP719999.RA7fMkik08wpwufH2sOZlQiF719pqGZs4SCGQZ9GzgNSg130_provenance.
- NP719999.RA7fMkik08wpwufH2sOZlQiF719pqGZs4SCGQZ9GzgNSg130_assertion evidence source_evidence_literature NP719999.RA7fMkik08wpwufH2sOZlQiF719pqGZs4SCGQZ9GzgNSg130_provenance.
- NP719999.RA7fMkik08wpwufH2sOZlQiF719pqGZs4SCGQZ9GzgNSg130_assertion SIO_000772 20493457 NP719999.RA7fMkik08wpwufH2sOZlQiF719pqGZs4SCGQZ9GzgNSg130_provenance.
- NP719999.RA7fMkik08wpwufH2sOZlQiF719pqGZs4SCGQZ9GzgNSg130_assertion wasDerivedFrom befree-20150227 NP719999.RA7fMkik08wpwufH2sOZlQiF719pqGZs4SCGQZ9GzgNSg130_provenance.
- NP719999.RA7fMkik08wpwufH2sOZlQiF719pqGZs4SCGQZ9GzgNSg130_assertion wasGeneratedBy ECO_0000203 NP719999.RA7fMkik08wpwufH2sOZlQiF719pqGZs4SCGQZ9GzgNSg130_provenance.