Matches in Nanopublications for { <http://krauthammerlab.med.yale.edu/nanopub/GeneRIF411225.RA6RaWz5NYpWq9N0mfhbA_FbsdijV-A15SNF8sSOFWB0M#assertion> ?p ?o ?g. }
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- assertion type UnderspecifiedAssertion assertion.
- assertion hadPrimarySource 21738390 provenance.
- assertion wasDerivedFrom generifs_basic.gz provenance.
- assertion about 9606 assertion.
- assertion about 7439 assertion.
- assertion asSentence A+great+clinical+variability+is+associated+with+homozygous+mutations+in+BEST1%2C+ranging+from+severe+dominant+Best+vitelliform+macular+dystrophy+with+reduced+penetrance+in+heterozygotes+to+autosomal+recessive+bestrophinopathy. assertion.