Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R1124delFs
Back to variants list

TSC2

NM_001406676.1:p.R1124delFs

Associated Papers

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.

Dufner-Almeida LG et al.

Genes, 2024

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.

West HD et al.

Human Mutation, 2023

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.

Qin W et al.

Human Genetics, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."