Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q739*
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TSC1

NM_000368.5:p.Q739*

Associated Papers

Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.

Praticò AD et al.

Scientific Reports, 2025

40579409 (PubMed )
Supplement: 41598_2025_4718_MOESM1_ESM.xlsx › Foglio1

Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.

Axelsson TA et al.

Bju International, 2025

39654327 (PubMed )
Supplement: BJU-135-792-s001.xlsx › Sheet1

Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.

Carrasco R et al.

Frontiers in Oncology, 2023

38098507 (PubMed )
Supplement: DataSheet_3.xlsx › Pt_1

Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

De Falco V et al.

Esmo Open, 2020

32234730 (PubMed )
Supplement: esmoopen-2020-000675supp003.pdf

A systematic study of gene mutations in urothelial carcinoma; inactivating mutations in TSC2 and PIK3R1.

Sjödahl G et al.

Plos One, 2011

21533174 (PubMed )
Supplement: pone.0018583.s004.xls › 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."