Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP813.RArKdydky3QTBG0qK5Wk2VTitCJCuf5Ganpr9DC0BhGyE130_assertion> ?p ?o ?g. }
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- NP813.RArKdydky3QTBG0qK5Wk2VTitCJCuf5Ganpr9DC0BhGyE130_assertion type Assertion NP813.RArKdydky3QTBG0qK5Wk2VTitCJCuf5Ganpr9DC0BhGyE130_head.
- NP813.RArKdydky3QTBG0qK5Wk2VTitCJCuf5Ganpr9DC0BhGyE130_assertion description "[We have identified two new mutations in exon D of the biotinidase gene of children with profound biotinidase deficiency ascertained by newborn screening.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP813.RArKdydky3QTBG0qK5Wk2VTitCJCuf5Ganpr9DC0BhGyE130_provenance.
- NP813.RArKdydky3QTBG0qK5Wk2VTitCJCuf5Ganpr9DC0BhGyE130_assertion evidence source_evidence_curated NP813.RArKdydky3QTBG0qK5Wk2VTitCJCuf5Ganpr9DC0BhGyE130_provenance.
- NP813.RArKdydky3QTBG0qK5Wk2VTitCJCuf5Ganpr9DC0BhGyE130_assertion SIO_000772 10206677 NP813.RArKdydky3QTBG0qK5Wk2VTitCJCuf5Ganpr9DC0BhGyE130_provenance.
- NP813.RArKdydky3QTBG0qK5Wk2VTitCJCuf5Ganpr9DC0BhGyE130_assertion wasDerivedFrom uniprot-20130724 NP813.RArKdydky3QTBG0qK5Wk2VTitCJCuf5Ganpr9DC0BhGyE130_provenance.
- NP813.RArKdydky3QTBG0qK5Wk2VTitCJCuf5Ganpr9DC0BhGyE130_assertion wasGeneratedBy ECO_0000218 NP813.RArKdydky3QTBG0qK5Wk2VTitCJCuf5Ganpr9DC0BhGyE130_provenance.