Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_assertion> ?p ?o ?g. }
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- NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_assertion type Assertion NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_head.
- NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_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." NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_provenance.
- NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_assertion evidence source_evidence_literature NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_provenance.
- NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_assertion SIO_000772 19123159 NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_provenance.
- NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_assertion wasDerivedFrom befree-20150227 NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_provenance.
- NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_assertion wasGeneratedBy ECO_0000203 NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_provenance.