Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.S1498N
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TSC2

NM_000548.5:p.S1498N

Associated Papers

Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex.

You Q et al.

Human Mutation, 2025

New insights into tuberous sclerosis complex: from structure to pathogenesis.

Chen CS et al.

Frontiers in Cell and Developmental Biology, 2025

40655946 (PubMed )
Supplement: DataSheet1.pdf

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

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

Magnetic resonance imaging of renal involvement in genetically studied patients with tuberous sclerosis complex.

Pompili G et al.

European Journal of Radiology, 2009

Hamartin and tuberin modulate gene transcription via beta-catenin.

Jozwiak J et al.

Journal of Neuro-oncology, 2006

Aberrant beta-catenin signaling in tuberous sclerosis.

Mak BC et al.

The American Journal of Pathology, 2005

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Jones AC et al.

American Journal of Human Genetics, 1999

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