Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP625767.RAB6ZWcUnML9Wu9ZgEVXQ5R1E65Q1Q2UdKqNknAm9YDRo130_assertion> ?p ?o ?g. }
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- NP625767.RAB6ZWcUnML9Wu9ZgEVXQ5R1E65Q1Q2UdKqNknAm9YDRo130_assertion type Assertion NP625767.RAB6ZWcUnML9Wu9ZgEVXQ5R1E65Q1Q2UdKqNknAm9YDRo130_head.
- NP625767.RAB6ZWcUnML9Wu9ZgEVXQ5R1E65Q1Q2UdKqNknAm9YDRo130_assertion wasGeneratedBy ECO_0000203 NP625767.RAB6ZWcUnML9Wu9ZgEVXQ5R1E65Q1Q2UdKqNknAm9YDRo130_provenance.
- NP625767.RAB6ZWcUnML9Wu9ZgEVXQ5R1E65Q1Q2UdKqNknAm9YDRo130_assertion wasDerivedFrom befree-20150227 NP625767.RAB6ZWcUnML9Wu9ZgEVXQ5R1E65Q1Q2UdKqNknAm9YDRo130_provenance.
- NP625767.RAB6ZWcUnML9Wu9ZgEVXQ5R1E65Q1Q2UdKqNknAm9YDRo130_assertion SIO_000772 22351933 NP625767.RAB6ZWcUnML9Wu9ZgEVXQ5R1E65Q1Q2UdKqNknAm9YDRo130_provenance.
- NP625767.RAB6ZWcUnML9Wu9ZgEVXQ5R1E65Q1Q2UdKqNknAm9YDRo130_assertion evidence source_evidence_literature NP625767.RAB6ZWcUnML9Wu9ZgEVXQ5R1E65Q1Q2UdKqNknAm9YDRo130_provenance.
- NP625767.RAB6ZWcUnML9Wu9ZgEVXQ5R1E65Q1Q2UdKqNknAm9YDRo130_assertion description "[A homozygous premature stop codon in exon 6 of PIK3R1 was identified in a young woman with colitis and absent B cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP625767.RAB6ZWcUnML9Wu9ZgEVXQ5R1E65Q1Q2UdKqNknAm9YDRo130_provenance.