Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R1751C
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TSC2

NM_000548.5:p.R1751C

Associated Papers

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › Hot.spot.panel.SNP_all_variants

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

Klonowska K et al.

The Journal of Clinical Investigation, 2022

35358092 (PubMed )
Supplement: jci-132-155858-s185.xlsx › Supplemental_Table_2.2.

Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.

Sun H et al.

Nature Communications, 2021

34429404 (PubMed )
Supplement: 41467_2021_25177_MOESM8_ESM.xlsx › Sheet1

Clinically Actionable Insights into Initial and Matched Recurrent Glioblastomas to Inform Novel Treatment Approaches.

Ellis HP et al.

Journal of Oncology, 2019

32082376 (PubMed )
Supplement: 4878547.f1.zip › 4878547.f1 › Ellis_et_al_SNVs_041018_Supplementary_Tables.xlsx › TableS7_TCGA_mutatons

Validating Comprehensive Next-Generation Sequencing Results for Precision Oncology: The NCT/DKTK Molecularly Aided Stratification for Tumor Eradication Research Experience.

Lier A et al.

Jco Precision Oncology, 2018

35135162 (PubMed )
Supplement: ds_po.18.00171-2.pdf

High throughput gene sequencing reveals altered landscape in DNA damage responses and chromatin remodeling in sporadic pancreatic neuroendocrine tumors.

Ji S et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2018

TSC2 rare germline variants in non-tuberous sclerosis patients with neuroendocrine neoplasias.

Asprino PF et al.

Endocrine-related Cancer, 2018

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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."