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- source_evidence_literature type ECO_0000212 NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_provenance.
- NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_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." NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_provenance.
- NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_assertion evidence source_evidence_literature NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_provenance.
- NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_assertion SIO_000772 21738390 NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_provenance.
- NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_assertion wasDerivedFrom befree-2016 NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_provenance.
- NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_assertion wasGeneratedBy ECO_0000203 NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_provenance.
- befree-2016 importedOn "2016-02-19" NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_provenance.