Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R1729C
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TSC2

NM_000548.5:p.R1729C

Associated Papers

Validation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin America.

Salvo M et al.

Journal of Personalized Medicine, 2021

Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Wang S et al.

Frontiers in Oncology, 2020

32373528 (PubMed )
Supplement: Table_6.xlsx › Sheet1

High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer.

Lee SE et al.

Scientific Reports, 2019

31358837 (PubMed )
Supplement: 41598_2019_47439_MOESM2_ESM.xlsx › Table_S5

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Bahl S et al.

Molecular Autism, 2013

23514105 (PubMed )
Supplement: 2040-2392-4-5-S5.xls › Sheet1

Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Isokpehi RD et al.

Bioinformatics and Biology Insights, 2010

20981267 (PubMed )
Supplement: BBI-4-supplementary.xls › SNPs3D_-_Substitutions_to_Cys
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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."