Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_assertion> ?p ?o ?g. }
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- NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_assertion type Assertion NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_head.
- NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_assertion description "[Based upon the unique finding of the mutation and the expression of CRYAA in the lens, this R21L mutation in the CRYAA is considered to be causative for the dominant cataract phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_provenance.
- NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_assertion evidence source_evidence_literature NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_provenance.
- NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_assertion SIO_000772 16453125 NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_provenance.
- NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_assertion wasDerivedFrom befree-2016 NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_provenance.
- NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_assertion wasGeneratedBy ECO_0000203 NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_provenance.