Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1307797.RAC9ZTP9Z-txErSBZLEOyf3BnMeaVoO3lw2rvWHH9r9Uo#assertion> ?p ?o ?g. }
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- assertion description "[Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 21677667 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.