Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP955406.RAopR4yIFTV0NWkQ4rQFAZE1CABb7m2A836h0V42lXZ9s130_assertion> ?p ?o ?g. }
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- NP955406.RAopR4yIFTV0NWkQ4rQFAZE1CABb7m2A836h0V42lXZ9s130_assertion type Assertion NP955406.RAopR4yIFTV0NWkQ4rQFAZE1CABb7m2A836h0V42lXZ9s130_head.
- 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.
- NP955406.RAopR4yIFTV0NWkQ4rQFAZE1CABb7m2A836h0V42lXZ9s130_assertion evidence source_evidence_literature NP955406.RAopR4yIFTV0NWkQ4rQFAZE1CABb7m2A836h0V42lXZ9s130_provenance.
- NP955406.RAopR4yIFTV0NWkQ4rQFAZE1CABb7m2A836h0V42lXZ9s130_assertion SIO_000772 25439727 NP955406.RAopR4yIFTV0NWkQ4rQFAZE1CABb7m2A836h0V42lXZ9s130_provenance.
- NP955406.RAopR4yIFTV0NWkQ4rQFAZE1CABb7m2A836h0V42lXZ9s130_assertion wasDerivedFrom befree-20150227 NP955406.RAopR4yIFTV0NWkQ4rQFAZE1CABb7m2A836h0V42lXZ9s130_provenance.
- NP955406.RAopR4yIFTV0NWkQ4rQFAZE1CABb7m2A836h0V42lXZ9s130_assertion wasGeneratedBy ECO_0000203 NP955406.RAopR4yIFTV0NWkQ4rQFAZE1CABb7m2A836h0V42lXZ9s130_provenance.