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Mild TSC Phenotype and Non-Penetrance Associated with a Frameshift Variant in TSC2 Prompts Caution in Evaluating Pathogenicity of Frameshift Variants

Jun 14, 2023 |

By Farach LS, van Unen L, Crino PB, Sing Au K

| ncbi.nlm.nih.gov

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Mild TSC Phenotype and Non-Penetrance Associated with a Frameshift Variant in TSC2 Prompts Caution in Evaluating Pathogenicity of Frameshift Variants

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