Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1238018.RAbJOHgsRvTEPVhfJmtM_APTVvSC1vveKPCqQdaC2rpCY130_assertion> ?p ?o ?g. }
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- NP1238018.RAbJOHgsRvTEPVhfJmtM_APTVvSC1vveKPCqQdaC2rpCY130_assertion type Assertion NP1238018.RAbJOHgsRvTEPVhfJmtM_APTVvSC1vveKPCqQdaC2rpCY130_head.
- NP1238018.RAbJOHgsRvTEPVhfJmtM_APTVvSC1vveKPCqQdaC2rpCY130_assertion description "[In family A, we identified a recurrent heterozygous mutation in exon-2 of the gene encoding ?D-crystallin (CRYGD; c.70C?>?A, p.Pro24Thr) that co-segregated with 'coralliform' lens opacities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1238018.RAbJOHgsRvTEPVhfJmtM_APTVvSC1vveKPCqQdaC2rpCY130_provenance.
- NP1238018.RAbJOHgsRvTEPVhfJmtM_APTVvSC1vveKPCqQdaC2rpCY130_assertion evidence source_evidence_literature NP1238018.RAbJOHgsRvTEPVhfJmtM_APTVvSC1vveKPCqQdaC2rpCY130_provenance.
- NP1238018.RAbJOHgsRvTEPVhfJmtM_APTVvSC1vveKPCqQdaC2rpCY130_assertion SIO_000772 25403472 NP1238018.RAbJOHgsRvTEPVhfJmtM_APTVvSC1vveKPCqQdaC2rpCY130_provenance.
- NP1238018.RAbJOHgsRvTEPVhfJmtM_APTVvSC1vveKPCqQdaC2rpCY130_assertion wasDerivedFrom befree-2016 NP1238018.RAbJOHgsRvTEPVhfJmtM_APTVvSC1vveKPCqQdaC2rpCY130_provenance.
- NP1238018.RAbJOHgsRvTEPVhfJmtM_APTVvSC1vveKPCqQdaC2rpCY130_assertion wasGeneratedBy ECO_0000203 NP1238018.RAbJOHgsRvTEPVhfJmtM_APTVvSC1vveKPCqQdaC2rpCY130_provenance.