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- source_evidence_literature type ECO_0000212 NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP1290104.RA2fmcoXdZXrnmu3orRzWwLUbYM_hRDU8EYQDkPQ0bZlc130_provenance.