Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1061597.RA38-OszuvhfFIPQeI90SfdyxuJjydGt0i4CLW2mM_L14130_assertion> ?p ?o ?g. }
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- NP1061597.RA38-OszuvhfFIPQeI90SfdyxuJjydGt0i4CLW2mM_L14130_assertion type Assertion NP1061597.RA38-OszuvhfFIPQeI90SfdyxuJjydGt0i4CLW2mM_L14130_head.
- NP1061597.RA38-OszuvhfFIPQeI90SfdyxuJjydGt0i4CLW2mM_L14130_assertion description "[The p.(Val50Met) mutation in CRYBA2 cosegregated with disease phenotype in a four-generation pedigree with autosomal dominant congenital cataracts with incomplete penetrance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1061597.RA38-OszuvhfFIPQeI90SfdyxuJjydGt0i4CLW2mM_L14130_provenance.
- NP1061597.RA38-OszuvhfFIPQeI90SfdyxuJjydGt0i4CLW2mM_L14130_assertion evidence source_evidence_literature NP1061597.RA38-OszuvhfFIPQeI90SfdyxuJjydGt0i4CLW2mM_L14130_provenance.
- NP1061597.RA38-OszuvhfFIPQeI90SfdyxuJjydGt0i4CLW2mM_L14130_assertion SIO_000772 23508780 NP1061597.RA38-OszuvhfFIPQeI90SfdyxuJjydGt0i4CLW2mM_L14130_provenance.
- NP1061597.RA38-OszuvhfFIPQeI90SfdyxuJjydGt0i4CLW2mM_L14130_assertion wasDerivedFrom befree-2016 NP1061597.RA38-OszuvhfFIPQeI90SfdyxuJjydGt0i4CLW2mM_L14130_provenance.
- NP1061597.RA38-OszuvhfFIPQeI90SfdyxuJjydGt0i4CLW2mM_L14130_assertion wasGeneratedBy ECO_0000203 NP1061597.RA38-OszuvhfFIPQeI90SfdyxuJjydGt0i4CLW2mM_L14130_provenance.