Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP266250.RAX4GJhlukREtrCMiW4DHJb8F5YhgLxa62NfQBcDYaX8M130_assertion> ?p ?o ?g. }
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- NP266250.RAX4GJhlukREtrCMiW4DHJb8F5YhgLxa62NfQBcDYaX8M130_assertion type Assertion NP266250.RAX4GJhlukREtrCMiW4DHJb8F5YhgLxa62NfQBcDYaX8M130_head.
- NP266250.RAX4GJhlukREtrCMiW4DHJb8F5YhgLxa62NfQBcDYaX8M130_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." NP266250.RAX4GJhlukREtrCMiW4DHJb8F5YhgLxa62NfQBcDYaX8M130_provenance.
- NP266250.RAX4GJhlukREtrCMiW4DHJb8F5YhgLxa62NfQBcDYaX8M130_assertion evidence source_evidence_literature NP266250.RAX4GJhlukREtrCMiW4DHJb8F5YhgLxa62NfQBcDYaX8M130_provenance.
- NP266250.RAX4GJhlukREtrCMiW4DHJb8F5YhgLxa62NfQBcDYaX8M130_assertion SIO_000772 22321012 NP266250.RAX4GJhlukREtrCMiW4DHJb8F5YhgLxa62NfQBcDYaX8M130_provenance.
- NP266250.RAX4GJhlukREtrCMiW4DHJb8F5YhgLxa62NfQBcDYaX8M130_assertion wasDerivedFrom befree-20140225 NP266250.RAX4GJhlukREtrCMiW4DHJb8F5YhgLxa62NfQBcDYaX8M130_provenance.
- NP266250.RAX4GJhlukREtrCMiW4DHJb8F5YhgLxa62NfQBcDYaX8M130_assertion wasGeneratedBy ECO_0000203 NP266250.RAX4GJhlukREtrCMiW4DHJb8F5YhgLxa62NfQBcDYaX8M130_provenance.