Matches in Nanopublications for { ?s ?p "[We thus expand the spectrum of clinical features associated with defects in plasmalogen biosynthesis to include FAR1 deficiency as a cause of syndromic severe intellectual disability with cataracts, epilepsy, and growth retardation but without rhizomelia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- assertion description "[We thus expand the spectrum of clinical features associated with defects in plasmalogen biosynthesis to include FAR1 deficiency as a cause of syndromic severe intellectual disability with cataracts, epilepsy, and growth retardation but without rhizomelia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP955406.RAopR4yIFTV0NWkQ4rQFAZE1CABb7m2A836h0V42lXZ9s130_assertion description "[We thus expand the spectrum of clinical features associated with defects in plasmalogen biosynthesis to include FAR1 deficiency as a cause of syndromic severe intellectual disability with cataracts, epilepsy, and growth retardation but without rhizomelia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP955406.RAopR4yIFTV0NWkQ4rQFAZE1CABb7m2A836h0V42lXZ9s130_provenance.