Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP329243.RARUoJdQZmGxkvSo7FjmPsVGTf-xNWSrjXSp5cVj2slA8130_assertion> ?p ?o ?g. }
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- NP329243.RARUoJdQZmGxkvSo7FjmPsVGTf-xNWSrjXSp5cVj2slA8130_assertion type Assertion NP329243.RARUoJdQZmGxkvSo7FjmPsVGTf-xNWSrjXSp5cVj2slA8130_head.
- NP329243.RARUoJdQZmGxkvSo7FjmPsVGTf-xNWSrjXSp5cVj2slA8130_assertion description "[These findings strongly implicate defects of RDH5 as the cause of fundus albipunctatus and point to a heterogeneity of RDH5 mutations in this form of congenital stationary night blindness with variable expressivity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP329243.RARUoJdQZmGxkvSo7FjmPsVGTf-xNWSrjXSp5cVj2slA8130_provenance.
- NP329243.RARUoJdQZmGxkvSo7FjmPsVGTf-xNWSrjXSp5cVj2slA8130_assertion evidence source_evidence_literature NP329243.RARUoJdQZmGxkvSo7FjmPsVGTf-xNWSrjXSp5cVj2slA8130_provenance.
- NP329243.RARUoJdQZmGxkvSo7FjmPsVGTf-xNWSrjXSp5cVj2slA8130_assertion SIO_000772 10617778 NP329243.RARUoJdQZmGxkvSo7FjmPsVGTf-xNWSrjXSp5cVj2slA8130_provenance.
- NP329243.RARUoJdQZmGxkvSo7FjmPsVGTf-xNWSrjXSp5cVj2slA8130_assertion wasDerivedFrom befree-20140225 NP329243.RARUoJdQZmGxkvSo7FjmPsVGTf-xNWSrjXSp5cVj2slA8130_provenance.
- NP329243.RARUoJdQZmGxkvSo7FjmPsVGTf-xNWSrjXSp5cVj2slA8130_assertion wasGeneratedBy ECO_0000203 NP329243.RARUoJdQZmGxkvSo7FjmPsVGTf-xNWSrjXSp5cVj2slA8130_provenance.