Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.M736_K737Splc
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TSC1

NM_000368.5:p.M736_K737Splc

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

Germline and sporadic mTOR pathway mutations in low-grade oncocytic tumor of the kidney.

Kapur P et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family.

Streff H et al.

Pediatric Neurology, 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."