Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP338735.RAzbRodXyIn1Caqw7R8czpqq6R1SsLX4GtfXEzdR_wWzU130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP338735.RAzbRodXyIn1Caqw7R8czpqq6R1SsLX4GtfXEzdR_wWzU130_assertion type Assertion NP338735.RAzbRodXyIn1Caqw7R8czpqq6R1SsLX4GtfXEzdR_wWzU130_head.
- NP338735.RAzbRodXyIn1Caqw7R8czpqq6R1SsLX4GtfXEzdR_wWzU130_assertion description "[A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP338735.RAzbRodXyIn1Caqw7R8czpqq6R1SsLX4GtfXEzdR_wWzU130_provenance.
- NP338735.RAzbRodXyIn1Caqw7R8czpqq6R1SsLX4GtfXEzdR_wWzU130_assertion evidence source_evidence_literature NP338735.RAzbRodXyIn1Caqw7R8czpqq6R1SsLX4GtfXEzdR_wWzU130_provenance.
- NP338735.RAzbRodXyIn1Caqw7R8czpqq6R1SsLX4GtfXEzdR_wWzU130_assertion SIO_000772 12073015 NP338735.RAzbRodXyIn1Caqw7R8czpqq6R1SsLX4GtfXEzdR_wWzU130_provenance.
- NP338735.RAzbRodXyIn1Caqw7R8czpqq6R1SsLX4GtfXEzdR_wWzU130_assertion wasDerivedFrom befree-20150227 NP338735.RAzbRodXyIn1Caqw7R8czpqq6R1SsLX4GtfXEzdR_wWzU130_provenance.
- NP338735.RAzbRodXyIn1Caqw7R8czpqq6R1SsLX4GtfXEzdR_wWzU130_assertion wasGeneratedBy ECO_0000203 NP338735.RAzbRodXyIn1Caqw7R8czpqq6R1SsLX4GtfXEzdR_wWzU130_provenance.