Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP902374.RAdwV4nsxpprHzFDfVhUesWkiL_IC_AXMxY_xR-rBt1ME130_assertion> ?p ?o ?g. }
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- NP902374.RAdwV4nsxpprHzFDfVhUesWkiL_IC_AXMxY_xR-rBt1ME130_assertion type Assertion NP902374.RAdwV4nsxpprHzFDfVhUesWkiL_IC_AXMxY_xR-rBt1ME130_head.
- NP902374.RAdwV4nsxpprHzFDfVhUesWkiL_IC_AXMxY_xR-rBt1ME130_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." NP902374.RAdwV4nsxpprHzFDfVhUesWkiL_IC_AXMxY_xR-rBt1ME130_provenance.
- NP902374.RAdwV4nsxpprHzFDfVhUesWkiL_IC_AXMxY_xR-rBt1ME130_assertion evidence source_evidence_literature NP902374.RAdwV4nsxpprHzFDfVhUesWkiL_IC_AXMxY_xR-rBt1ME130_provenance.
- NP902374.RAdwV4nsxpprHzFDfVhUesWkiL_IC_AXMxY_xR-rBt1ME130_assertion SIO_000772 21677667 NP902374.RAdwV4nsxpprHzFDfVhUesWkiL_IC_AXMxY_xR-rBt1ME130_provenance.
- NP902374.RAdwV4nsxpprHzFDfVhUesWkiL_IC_AXMxY_xR-rBt1ME130_assertion wasDerivedFrom befree-20150227 NP902374.RAdwV4nsxpprHzFDfVhUesWkiL_IC_AXMxY_xR-rBt1ME130_provenance.
- NP902374.RAdwV4nsxpprHzFDfVhUesWkiL_IC_AXMxY_xR-rBt1ME130_assertion wasGeneratedBy ECO_0000203 NP902374.RAdwV4nsxpprHzFDfVhUesWkiL_IC_AXMxY_xR-rBt1ME130_provenance.