Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q1419delFs
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TSC2

NM_000548.5:p.Q1419delFs

Associated Papers

Mechanistic strategies for secondary prevention of developmental and epileptic encephalopathy in children with tuberous sclerosis complex.

Specchio N et al.

Ebiomedicine, 2025

Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

Milon V et al.

European Journal of Human Genetics : Ejhg, 2024

Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.

Farach LS et al.

Gene, 2023

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