Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.E483*
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TSC2

NM_000548.5:p.E483*

Associated Papers

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 › TSC2

Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.

Luo C et al.

Orphanet Journal of Rare Diseases, 2022

35870981 (PubMed )
Supplement: 13023_2022_2443_MOESM1_ESM.xlsx › tsc2

Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex.

Tessarech M et al.

American Journal of Medical Genetics. Part A, 2020

Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.

Jang MA et al.

Pediatric Neurology, 2012

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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."