Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.P1737T
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TSC2

NM_000548.5:p.P1737T

Associated Papers

Whole-genome mapping of APOBEC mutagenesis in metastatic urothelial carcinoma identifies driver hotspot mutations and a novel mutational signature.

Nakauma-González JA et al.

Cell Genomics, 2024

38552621 (PubMed )
Supplement: mmc7.xlsx › S6.Driver_ApoHM

Targeting mTOR signaling for the treatment of intrahepatic cholangiocarcinoma with TSC1/ARID1A mutations: a case report with an unexpected response.

Daugan C et al.

Therapeutic Advances in Medical Oncology, 2024

Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.

Huang J et al.

Bmc Pulmonary Medicine, 2022

36117164 (PubMed )
Supplement: 12890_2022_2154_MOESM4_ESM.xlsx › sheet1

Neuroblastoma Risk Assessment and Treatment Stratification with Hybrid Capture-Based Panel Sequencing.

Szymansky A et al.

Journal of Personalized Medicine, 2021

34442335 (PubMed )
Supplement: jpm-11-00691-s001.zip › S15-SNVs_routine_cohort.xlsx › SNVs_Bigcohort

Multiregional Sequencing of IDH-WT Glioblastoma Reveals High Genetic Heterogeneity and a Dynamic Evolutionary History.

Franceschi S et al.

Cancers, 2021

33922652 (PubMed )
Supplement: cancers-13-02044-s001.zip › Supplementary_Table_S3.xlsx › Supplementary_Table_S3

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s011.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."