Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP430980.RARh5Q9tg7317h8TMbV_HgpC7SXpKzKilVCCqsw9BJiiE130_assertion> ?p ?o ?g. }
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- NP430980.RARh5Q9tg7317h8TMbV_HgpC7SXpKzKilVCCqsw9BJiiE130_assertion type Assertion NP430980.RARh5Q9tg7317h8TMbV_HgpC7SXpKzKilVCCqsw9BJiiE130_head.
- NP430980.RARh5Q9tg7317h8TMbV_HgpC7SXpKzKilVCCqsw9BJiiE130_assertion description "[Recent studies have shown that homozygous mutations in the HAX1 gene are associated with autosomal recessive forms of severe congenital neutropenia (also known as Kostmann disease), and results from studies in mice and men are beginning to unravel a prominent role for HAX-1 in apoptosis signaling not only in the hematopoietic compartment, but also in the central nervous system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP430980.RARh5Q9tg7317h8TMbV_HgpC7SXpKzKilVCCqsw9BJiiE130_provenance.
- NP430980.RARh5Q9tg7317h8TMbV_HgpC7SXpKzKilVCCqsw9BJiiE130_assertion evidence source_evidence_literature NP430980.RARh5Q9tg7317h8TMbV_HgpC7SXpKzKilVCCqsw9BJiiE130_provenance.
- NP430980.RARh5Q9tg7317h8TMbV_HgpC7SXpKzKilVCCqsw9BJiiE130_assertion SIO_000772 19524642 NP430980.RARh5Q9tg7317h8TMbV_HgpC7SXpKzKilVCCqsw9BJiiE130_provenance.
- NP430980.RARh5Q9tg7317h8TMbV_HgpC7SXpKzKilVCCqsw9BJiiE130_assertion wasDerivedFrom befree-20140225 NP430980.RARh5Q9tg7317h8TMbV_HgpC7SXpKzKilVCCqsw9BJiiE130_provenance.
- NP430980.RARh5Q9tg7317h8TMbV_HgpC7SXpKzKilVCCqsw9BJiiE130_assertion wasGeneratedBy ECO_0000203 NP430980.RARh5Q9tg7317h8TMbV_HgpC7SXpKzKilVCCqsw9BJiiE130_provenance.