Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP514721.RA6dzDDJhZsUAvX2bYBgWcDB0tBOrKPP7LjFZJEUrdDjU130_assertion> ?p ?o ?g. }
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- NP514721.RA6dzDDJhZsUAvX2bYBgWcDB0tBOrKPP7LjFZJEUrdDjU130_assertion type Assertion NP514721.RA6dzDDJhZsUAvX2bYBgWcDB0tBOrKPP7LjFZJEUrdDjU130_head.
- NP514721.RA6dzDDJhZsUAvX2bYBgWcDB0tBOrKPP7LjFZJEUrdDjU130_assertion description "[Our finding expands the spectrum of cataract phenotypes caused by the Q155X mutation of CRYBB2, confirms the phenotypic heterogeneity of this mutation and suggests the mechanism that influences the congenital cataract formation in different ethnic backgrounds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP514721.RA6dzDDJhZsUAvX2bYBgWcDB0tBOrKPP7LjFZJEUrdDjU130_provenance.
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- NP514721.RA6dzDDJhZsUAvX2bYBgWcDB0tBOrKPP7LjFZJEUrdDjU130_assertion SIO_000772 16179907 NP514721.RA6dzDDJhZsUAvX2bYBgWcDB0tBOrKPP7LjFZJEUrdDjU130_provenance.
- NP514721.RA6dzDDJhZsUAvX2bYBgWcDB0tBOrKPP7LjFZJEUrdDjU130_assertion wasDerivedFrom befree-2016 NP514721.RA6dzDDJhZsUAvX2bYBgWcDB0tBOrKPP7LjFZJEUrdDjU130_provenance.
- NP514721.RA6dzDDJhZsUAvX2bYBgWcDB0tBOrKPP7LjFZJEUrdDjU130_assertion wasGeneratedBy ECO_0000203 NP514721.RA6dzDDJhZsUAvX2bYBgWcDB0tBOrKPP7LjFZJEUrdDjU130_provenance.