Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q343_A344Splc
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TSC1

NM_000368.5:p.Q343_A344Splc

Associated Papers

Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Sun D et al.

Frontiers in Oncology, 2022

36425562 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Next-generation sequencing reveals somatic mutations that confer exceptional response to everolimus.

Lim SM et al.

Oncotarget, 2016

Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography.

Bénit P et al.

Human Mutation, 2000

Molecular genetic advances in tuberous sclerosis.

Cheadle JP et al.

Human Genetics, 2000

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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."