Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q373H
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TSC2

NM_000548.5:p.Q373H

Associated Papers

Multimodal framework to resolve variants of uncertain significance in TSC2.

Biar CG et al.

Biorxiv : the Preprint Server for Biology, 2024

38895336 (PubMed )
Supplement: media-2.xlsx › Table_S2

Sporadic subependymal giant cell astrocytoma with somatic TSC2 mutation: A case report.

Alassiri AH et al.

Neurosciences (riyadh, Saudi Arabia), 2024

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC2

Do patients with tuberous sclerosis complex have an increased risk for malignancies?

Peron A et al.

American Journal of Medical Genetics. Part A, 2016

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

Heath KE 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."