Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP167941.RAhFo5enGIN-dc9dSTqKNxgVSNmTpLxAIXvB_fQldTlP8130_assertion> ?p ?o ?g. }
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- NP167941.RAhFo5enGIN-dc9dSTqKNxgVSNmTpLxAIXvB_fQldTlP8130_assertion type Assertion NP167941.RAhFo5enGIN-dc9dSTqKNxgVSNmTpLxAIXvB_fQldTlP8130_head.
- NP167941.RAhFo5enGIN-dc9dSTqKNxgVSNmTpLxAIXvB_fQldTlP8130_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." NP167941.RAhFo5enGIN-dc9dSTqKNxgVSNmTpLxAIXvB_fQldTlP8130_provenance.
- NP167941.RAhFo5enGIN-dc9dSTqKNxgVSNmTpLxAIXvB_fQldTlP8130_assertion evidence source_evidence_literature NP167941.RAhFo5enGIN-dc9dSTqKNxgVSNmTpLxAIXvB_fQldTlP8130_provenance.
- NP167941.RAhFo5enGIN-dc9dSTqKNxgVSNmTpLxAIXvB_fQldTlP8130_assertion SIO_000772 19123159 NP167941.RAhFo5enGIN-dc9dSTqKNxgVSNmTpLxAIXvB_fQldTlP8130_provenance.
- NP167941.RAhFo5enGIN-dc9dSTqKNxgVSNmTpLxAIXvB_fQldTlP8130_assertion wasDerivedFrom befree-20140225 NP167941.RAhFo5enGIN-dc9dSTqKNxgVSNmTpLxAIXvB_fQldTlP8130_provenance.
- NP167941.RAhFo5enGIN-dc9dSTqKNxgVSNmTpLxAIXvB_fQldTlP8130_assertion wasGeneratedBy ECO_0000203 NP167941.RAhFo5enGIN-dc9dSTqKNxgVSNmTpLxAIXvB_fQldTlP8130_provenance.