Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP712312.RAd81lgFHogYq0ZvFV7-cVk3a6BYA8OqZBb81A2ZEfqkc130_assertion> ?p ?o ?g. }
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- NP712312.RAd81lgFHogYq0ZvFV7-cVk3a6BYA8OqZBb81A2ZEfqkc130_assertion type Assertion NP712312.RAd81lgFHogYq0ZvFV7-cVk3a6BYA8OqZBb81A2ZEfqkc130_head.
- NP712312.RAd81lgFHogYq0ZvFV7-cVk3a6BYA8OqZBb81A2ZEfqkc130_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." NP712312.RAd81lgFHogYq0ZvFV7-cVk3a6BYA8OqZBb81A2ZEfqkc130_provenance.
- NP712312.RAd81lgFHogYq0ZvFV7-cVk3a6BYA8OqZBb81A2ZEfqkc130_assertion evidence source_evidence_literature NP712312.RAd81lgFHogYq0ZvFV7-cVk3a6BYA8OqZBb81A2ZEfqkc130_provenance.
- NP712312.RAd81lgFHogYq0ZvFV7-cVk3a6BYA8OqZBb81A2ZEfqkc130_assertion SIO_000772 19123159 NP712312.RAd81lgFHogYq0ZvFV7-cVk3a6BYA8OqZBb81A2ZEfqkc130_provenance.
- NP712312.RAd81lgFHogYq0ZvFV7-cVk3a6BYA8OqZBb81A2ZEfqkc130_assertion wasDerivedFrom befree-2016 NP712312.RAd81lgFHogYq0ZvFV7-cVk3a6BYA8OqZBb81A2ZEfqkc130_provenance.
- NP712312.RAd81lgFHogYq0ZvFV7-cVk3a6BYA8OqZBb81A2ZEfqkc130_assertion wasGeneratedBy ECO_0000203 NP712312.RAd81lgFHogYq0ZvFV7-cVk3a6BYA8OqZBb81A2ZEfqkc130_provenance.