Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_assertion> ?p ?o ?g. }
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- NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_assertion type Assertion NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_head.
- NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_assertion description "[As demonstrated in these consanguineous families, a great clinical variability is associated with homozygous mutations in BEST1, ranging from severe dominant BVMD with reduced penetrance in heterozygotes to autosomal recessive bestrophinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance.
- NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_assertion evidence source_evidence_literature NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance.
- NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_assertion SIO_000772 21738390 NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance.
- NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_assertion wasDerivedFrom befree-20150227 NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance.
- NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_assertion wasGeneratedBy ECO_0000203 NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance.