Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_provenance.
- NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_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." NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_provenance.
- NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_assertion evidence source_evidence_literature NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_provenance.
- NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_assertion SIO_000772 22321012 NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_provenance.
- NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_assertion wasDerivedFrom befree-2016 NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_provenance.
- NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_assertion wasGeneratedBy ECO_0000203 NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_provenance.
- befree-2016 importedOn "2016-02-19" NP959724.RAwm_3b2_5fD55GgKoUDCnpxoAGQCpquT9hCci8DRVWv4130_provenance.