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Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

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Temple IK, Shrubb V, Lever M, et al
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14