Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.E1413*
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TSC2

NM_000548.5:p.E1413*

Associated Papers

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Wallis M et al.

Orphanet Journal of Rare Diseases, 2024

39095811 (PubMed )
Supplement: 13023_2024_3297_MOESM2_ESM.xlsx › Sheet1

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.

Ye Z et al.

Human Mutation, 2022

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