Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E787*
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TSC1

NM_000368.5:p.E787*

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 › TSC1

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Rosengren T et al.

Scientific Reports, 2020

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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."