Matches in Nanopublications for { ?s ?p "[Here, we report the identification of mutations in another gene in plasmalogen biosynthesis, fatty acyl-CoA reductase 1 (FAR1), in two families affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_assertion description "[Here, we report the identification of mutations in another gene in plasmalogen biosynthesis, fatty acyl-CoA reductase 1 (FAR1), in two families affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1241614.RAOBYfmeMlzhYJbaBuQxzloHG1kP9MG1H6vV0h5ruPgIY130_provenance.
- NP955403.RA2fhYqQTU4aHO-jy62T7z8WMAZHllnvfCZDS6Z_SMqFc130_assertion description "[Here, we report the identification of mutations in another gene in plasmalogen biosynthesis, fatty acyl-CoA reductase 1 (FAR1), in two families affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP955403.RA2fhYqQTU4aHO-jy62T7z8WMAZHllnvfCZDS6Z_SMqFc130_provenance.