Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Y776*
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TSC2

NM_000548.5:p.Y776*

Associated Papers

Recurrent mTOR pathway alterations in renal cell carcinoma with hemangioblastoma-like features: A multi-institutional study of 9 cases with expanding morphologic spectrum.

Zhao M et al.

Virchows Archiv : an International Journal of Pathology, 2025

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.

Togi S et al.

International Journal of Molecular Sciences, 2022

36232477 (PubMed )
Supplement: ijms-23-11175-s001.zip › Table_S1_TSC_Japan_dataset_2022_v3.xlsx › TSC_Japan_dataset

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Dabora SL et al.

American Journal of Human Genetics, 2001

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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."