Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.S1452*
Back to variants list

TSC2

NM_000548.5:p.S1452*

Associated Papers

Long-term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex.

Hofmann C et al.

American Journal of Medical Genetics. Part A, 2024

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

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data
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."