Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R593fs
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TSC1

NM_000368.5:p.R593fs

Associated Papers

ILAE neuroimaging task force highlight: Tuberous sclerosis complex-related epilepsy.

Chen X et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC1

A Multidisciplinary Approach in Prenatal Diagnosis of TSC With Cardiac Rhabdomyoma as the Initial Symptom.

Qi Y et al.

Frontiers in Pediatrics, 2021

34513752 (PubMed )
Supplement: Table_1.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."