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CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.

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Description scientific article published on 23 October 2007
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author: Carla Andreia Teixeira  Maria Gil Ribeiro  Lacerda L  Carlos Bessa  Mariana Alves 

Publication date October 23, 2007
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