Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q373Q
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TSC2

NM_000548.5:p.Q373Q

Associated Papers

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.

Dufner-Almeida LG et al.

Genes, 2024

An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.

Blasco-Pérez L et al.

The Journal of Molecular Diagnostics : Jmd, 2023

Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.

Bennett JA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

34131293 (PubMed )
Supplement: NIHMS1710671-supplement-Detailed_Sequencing_Variant_List.xlsx › Sheet1
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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."