Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP674438.RAWwWZmcCJlHw--_IgUzM23gv6PMkLJe45SwqDpAXV-oE130_assertion> ?p ?o ?g. }
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- NP674438.RAWwWZmcCJlHw--_IgUzM23gv6PMkLJe45SwqDpAXV-oE130_assertion type Assertion NP674438.RAWwWZmcCJlHw--_IgUzM23gv6PMkLJe45SwqDpAXV-oE130_head.
- NP674438.RAWwWZmcCJlHw--_IgUzM23gv6PMkLJe45SwqDpAXV-oE130_assertion description "[Here we present an association between the clinical presentations of adRP and sequence variants involving novel M216L mutation in the RHO gene together with nonsynonimous sequence changes R872H, N985Y, A1670T, S1691P, C2033Y, and synonimous Q1725Q with novel, N1521N, and T1733T SNPs in the RP1 gene of uncertain pathogenicity in a Turkish family with autosomal dominant retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP674438.RAWwWZmcCJlHw--_IgUzM23gv6PMkLJe45SwqDpAXV-oE130_provenance.
- NP674438.RAWwWZmcCJlHw--_IgUzM23gv6PMkLJe45SwqDpAXV-oE130_assertion evidence source_evidence_literature NP674438.RAWwWZmcCJlHw--_IgUzM23gv6PMkLJe45SwqDpAXV-oE130_provenance.
- NP674438.RAWwWZmcCJlHw--_IgUzM23gv6PMkLJe45SwqDpAXV-oE130_assertion SIO_000772 22321012 NP674438.RAWwWZmcCJlHw--_IgUzM23gv6PMkLJe45SwqDpAXV-oE130_provenance.
- NP674438.RAWwWZmcCJlHw--_IgUzM23gv6PMkLJe45SwqDpAXV-oE130_assertion wasDerivedFrom befree-20150227 NP674438.RAWwWZmcCJlHw--_IgUzM23gv6PMkLJe45SwqDpAXV-oE130_provenance.
- NP674438.RAWwWZmcCJlHw--_IgUzM23gv6PMkLJe45SwqDpAXV-oE130_assertion wasGeneratedBy ECO_0000203 NP674438.RAWwWZmcCJlHw--_IgUzM23gv6PMkLJe45SwqDpAXV-oE130_provenance.