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{{JASReference|mutation=
&&CYP27A1/Mut/1238/T-A&&V413D&&exon7
|title=A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene
|doi=10.1016/j.clineuro.2012.01.032
|pmid=22336472
}}

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