Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_assertion> ?p ?o ?g. }
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- NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_assertion type Assertion NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_head.
- NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_assertion description "[Severe congenital neutropenia (SCN) is a bone marrow failure disease with an autosomal dominant inheritance from mutations in ELANE.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_provenance.
- NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_assertion evidence source_evidence_literature NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_provenance.
- NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_assertion SIO_000772 26174650 NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_provenance.
- NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_assertion wasDerivedFrom befree-2016 NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_provenance.
- NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_assertion wasGeneratedBy ECO_0000203 NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_provenance.