Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP198493.RAtm140jvqw9demj7tgTbruN-OI7oaiqLhWXss_VnF1Ag130_assertion> ?p ?o ?g. }
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- NP198493.RAtm140jvqw9demj7tgTbruN-OI7oaiqLhWXss_VnF1Ag130_assertion type Assertion NP198493.RAtm140jvqw9demj7tgTbruN-OI7oaiqLhWXss_VnF1Ag130_head.
- NP198493.RAtm140jvqw9demj7tgTbruN-OI7oaiqLhWXss_VnF1Ag130_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.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP198493.RAtm140jvqw9demj7tgTbruN-OI7oaiqLhWXss_VnF1Ag130_provenance.
- NP198493.RAtm140jvqw9demj7tgTbruN-OI7oaiqLhWXss_VnF1Ag130_assertion evidence source_evidence_literature NP198493.RAtm140jvqw9demj7tgTbruN-OI7oaiqLhWXss_VnF1Ag130_provenance.
- NP198493.RAtm140jvqw9demj7tgTbruN-OI7oaiqLhWXss_VnF1Ag130_assertion SIO_000772 16179907 NP198493.RAtm140jvqw9demj7tgTbruN-OI7oaiqLhWXss_VnF1Ag130_provenance.
- NP198493.RAtm140jvqw9demj7tgTbruN-OI7oaiqLhWXss_VnF1Ag130_assertion wasDerivedFrom lhgdn-20090331 NP198493.RAtm140jvqw9demj7tgTbruN-OI7oaiqLhWXss_VnF1Ag130_provenance.
- NP198493.RAtm140jvqw9demj7tgTbruN-OI7oaiqLhWXss_VnF1Ag130_assertion wasGeneratedBy ECO_0000203 NP198493.RAtm140jvqw9demj7tgTbruN-OI7oaiqLhWXss_VnF1Ag130_provenance.