Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP601241.RApyo7NYBaHoqxXzocXLqEE7bwyHbAx-zMSvp36HbTV-Y130_assertion> ?p ?o ?g. }
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- NP601241.RApyo7NYBaHoqxXzocXLqEE7bwyHbAx-zMSvp36HbTV-Y130_assertion type Assertion NP601241.RApyo7NYBaHoqxXzocXLqEE7bwyHbAx-zMSvp36HbTV-Y130_head.
- NP601241.RApyo7NYBaHoqxXzocXLqEE7bwyHbAx-zMSvp36HbTV-Y130_assertion description "[The novel mutation p.G315X in the OA1 gene was identified in a Chinese family with ocular albinism, which is predicted to generate a premature stop codon.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP601241.RApyo7NYBaHoqxXzocXLqEE7bwyHbAx-zMSvp36HbTV-Y130_provenance.
- NP601241.RApyo7NYBaHoqxXzocXLqEE7bwyHbAx-zMSvp36HbTV-Y130_assertion evidence source_evidence_literature NP601241.RApyo7NYBaHoqxXzocXLqEE7bwyHbAx-zMSvp36HbTV-Y130_provenance.
- NP601241.RApyo7NYBaHoqxXzocXLqEE7bwyHbAx-zMSvp36HbTV-Y130_assertion SIO_000772 19123159 NP601241.RApyo7NYBaHoqxXzocXLqEE7bwyHbAx-zMSvp36HbTV-Y130_provenance.
- NP601241.RApyo7NYBaHoqxXzocXLqEE7bwyHbAx-zMSvp36HbTV-Y130_assertion wasDerivedFrom befree-20150227 NP601241.RApyo7NYBaHoqxXzocXLqEE7bwyHbAx-zMSvp36HbTV-Y130_provenance.
- NP601241.RApyo7NYBaHoqxXzocXLqEE7bwyHbAx-zMSvp36HbTV-Y130_assertion wasGeneratedBy ECO_0000203 NP601241.RApyo7NYBaHoqxXzocXLqEE7bwyHbAx-zMSvp36HbTV-Y130_provenance.