Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP135338.RAg3kn3fGgvmmT7XDo-V70Ttgo4ryDFIZD1xd5k2woucg130_assertion> ?p ?o ?g. }
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- NP135338.RAg3kn3fGgvmmT7XDo-V70Ttgo4ryDFIZD1xd5k2woucg130_assertion type Assertion NP135338.RAg3kn3fGgvmmT7XDo-V70Ttgo4ryDFIZD1xd5k2woucg130_head.
- NP135338.RAg3kn3fGgvmmT7XDo-V70Ttgo4ryDFIZD1xd5k2woucg130_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." NP135338.RAg3kn3fGgvmmT7XDo-V70Ttgo4ryDFIZD1xd5k2woucg130_provenance.
- NP135338.RAg3kn3fGgvmmT7XDo-V70Ttgo4ryDFIZD1xd5k2woucg130_assertion evidence source_evidence_literature NP135338.RAg3kn3fGgvmmT7XDo-V70Ttgo4ryDFIZD1xd5k2woucg130_provenance.
- NP135338.RAg3kn3fGgvmmT7XDo-V70Ttgo4ryDFIZD1xd5k2woucg130_assertion SIO_000772 16179907 NP135338.RAg3kn3fGgvmmT7XDo-V70Ttgo4ryDFIZD1xd5k2woucg130_provenance.
- NP135338.RAg3kn3fGgvmmT7XDo-V70Ttgo4ryDFIZD1xd5k2woucg130_assertion wasDerivedFrom lhgdn-20090331 NP135338.RAg3kn3fGgvmmT7XDo-V70Ttgo4ryDFIZD1xd5k2woucg130_provenance.
- NP135338.RAg3kn3fGgvmmT7XDo-V70Ttgo4ryDFIZD1xd5k2woucg130_assertion wasGeneratedBy ECO_0000203 NP135338.RAg3kn3fGgvmmT7XDo-V70Ttgo4ryDFIZD1xd5k2woucg130_provenance.