Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_assertion> ?p ?o ?g. }
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- NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_assertion type Assertion NP907962.RA3ooK845G__Vke6hc-kJKnjXc2b-KiB6hk6X2a102u8k130_head.
- 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.