Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP443171.RA1Lxw5N7etge7KDSbJgW7P6IMicdz-xPV1nTavuDz4mY130_assertion> ?p ?o ?g. }
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- NP443171.RA1Lxw5N7etge7KDSbJgW7P6IMicdz-xPV1nTavuDz4mY130_assertion type Assertion NP443171.RA1Lxw5N7etge7KDSbJgW7P6IMicdz-xPV1nTavuDz4mY130_head.
- NP443171.RA1Lxw5N7etge7KDSbJgW7P6IMicdz-xPV1nTavuDz4mY130_assertion description "[Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP443171.RA1Lxw5N7etge7KDSbJgW7P6IMicdz-xPV1nTavuDz4mY130_provenance.
- NP443171.RA1Lxw5N7etge7KDSbJgW7P6IMicdz-xPV1nTavuDz4mY130_assertion evidence source_evidence_literature NP443171.RA1Lxw5N7etge7KDSbJgW7P6IMicdz-xPV1nTavuDz4mY130_provenance.
- NP443171.RA1Lxw5N7etge7KDSbJgW7P6IMicdz-xPV1nTavuDz4mY130_assertion SIO_000772 23273570 NP443171.RA1Lxw5N7etge7KDSbJgW7P6IMicdz-xPV1nTavuDz4mY130_provenance.
- NP443171.RA1Lxw5N7etge7KDSbJgW7P6IMicdz-xPV1nTavuDz4mY130_assertion wasDerivedFrom befree-20150227 NP443171.RA1Lxw5N7etge7KDSbJgW7P6IMicdz-xPV1nTavuDz4mY130_provenance.
- NP443171.RA1Lxw5N7etge7KDSbJgW7P6IMicdz-xPV1nTavuDz4mY130_assertion wasGeneratedBy ECO_0000203 NP443171.RA1Lxw5N7etge7KDSbJgW7P6IMicdz-xPV1nTavuDz4mY130_provenance.