Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_provenance.
- NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_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." NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_provenance.
- NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_assertion evidence source_evidence_literature NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_provenance.
- NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_assertion SIO_000772 16453125 NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_provenance.
- NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_assertion wasDerivedFrom befree-2016 NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_provenance.
- NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_assertion wasGeneratedBy ECO_0000203 NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_provenance.
- befree-2016 importedOn "2016-02-19" NP534203.RAWl7wpuw6XMD0_ETjNYcfC27QFYdc5-MIQFfTRpI1hTY130_provenance.