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

EngineeringGenetic DisorderMedicineGeneticsGenetic EpidemiologyCln2/tpp1 DeficiencyIntron RetentionMild Disease PhenotypeMolecular GeneticsDisease Gene IdentificationSystems BiologyMolecular DiagnosticsGene ExpressionSplicing Variant