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“A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.”, J Biol Chem, vol. 279, no. 44, pp. 45951-6, 2004.
, “Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.”, Ophthalmology, vol. 109, no. 10, pp. 1862-70, 2002.
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