Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q783*
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TSC1

NM_000368.5:p.Q783*

Associated Papers

Tuberous Sclerosis Complex: A Case Series from a Romanian Genetics Center and a Review of the Literature.

Jurca AA et al.

Journal of Clinical Medicine, 2025

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.

Togi S et al.

International Journal of Molecular Sciences, 2022

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

Cardiac findings in tuberous sclerosis complex.

Bouwmeester S et al.

Lancet (london, England), 2021

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

Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Jiangyi W et al.

Aging, 2020

31927531 (PubMed )
Supplement: aging-12-102654-s001..xlsx › supplementary_table1

Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.

Meng H et al.

Biomed Research International, 2020

33062672 (PubMed )
Supplement: 2495157.f1.xlsx › Table_S5
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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."