Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.S1498T
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TSC2

NM_000548.5:p.S1498T

Associated Papers

Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance.

Kim YG et al.

European Journal of Human Genetics : Ejhg, 2025

40702147 (PubMed )
Supplement: 41431_2025_1911_MOESM2_ESM.xlsx › Supplementary_table

Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex.

You Q et al.

Human Mutation, 2025

New insights into tuberous sclerosis complex: from structure to pathogenesis.

Chen CS et al.

Frontiers in Cell and Developmental Biology, 2025

40655946 (PubMed )
Supplement: DataSheet1.pdf

[Gene diagnosis for a child with tuberous sclerosis].

Zhang Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014

Magnetic resonance imaging of renal involvement in genetically studied patients with tuberous sclerosis complex.

Pompili G et al.

European Journal of Radiology, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."