Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R1451fs
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TSC2

NM_000548.5:p.R1451fs

Associated Papers

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.

Vlachavas EI et al.

Molecular Oncology, 2025

Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.

Chung CWT et al.

Molecular Genetics & Genomic Medicine, 2024

From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.

De Wachter M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.

West HD et al.

Human Mutation, 2023

Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex.

Klonowska K et al.

Journal of Medical Genetics, 2022

Identification of novel mutations in TSC1 and TSC2 for tuberous sclerosis complex by targeted next-generation sequencing and ACMG guidelines.

He L et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2020

Multicenter experience with large panel next-generation sequencing in patients with advanced solid cancers in Japan.

Kato S et al.

Japanese Journal of Clinical Oncology, 2019

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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."