Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP917987.RAA0ONl2LcsaXg_rXdtjBHbkdLU2-bbppU-ftjI82KcOY130_assertion> ?p ?o ?g. }
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- NP917987.RAA0ONl2LcsaXg_rXdtjBHbkdLU2-bbppU-ftjI82KcOY130_assertion type Assertion NP917987.RAA0ONl2LcsaXg_rXdtjBHbkdLU2-bbppU-ftjI82KcOY130_head.
- NP917987.RAA0ONl2LcsaXg_rXdtjBHbkdLU2-bbppU-ftjI82KcOY130_assertion description "[By using exome and capillary sequencing, we here identify biallelic UBE3B mutations in four patients from three unrelated families presenting an autosomal-recessive blepharophimosis-ptosis-intellectual-disability syndrome characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP917987.RAA0ONl2LcsaXg_rXdtjBHbkdLU2-bbppU-ftjI82KcOY130_provenance.
- NP917987.RAA0ONl2LcsaXg_rXdtjBHbkdLU2-bbppU-ftjI82KcOY130_assertion evidence source_evidence_literature NP917987.RAA0ONl2LcsaXg_rXdtjBHbkdLU2-bbppU-ftjI82KcOY130_provenance.
- NP917987.RAA0ONl2LcsaXg_rXdtjBHbkdLU2-bbppU-ftjI82KcOY130_assertion SIO_000772 23200864 NP917987.RAA0ONl2LcsaXg_rXdtjBHbkdLU2-bbppU-ftjI82KcOY130_provenance.
- NP917987.RAA0ONl2LcsaXg_rXdtjBHbkdLU2-bbppU-ftjI82KcOY130_assertion wasDerivedFrom befree-20140225 NP917987.RAA0ONl2LcsaXg_rXdtjBHbkdLU2-bbppU-ftjI82KcOY130_provenance.
- NP917987.RAA0ONl2LcsaXg_rXdtjBHbkdLU2-bbppU-ftjI82KcOY130_assertion wasGeneratedBy ECO_0000203 NP917987.RAA0ONl2LcsaXg_rXdtjBHbkdLU2-bbppU-ftjI82KcOY130_provenance.