Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.D510fs
Back to variants list

TSC1

NM_000368.5:p.D510fs

Associated Papers

Malignant tumors in tuberous sclerosis complex: a case report and review of the literature.

Liu C et al.

Bmc Medical Genomics, 2024

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

Pancreatic Neuroendocrine Tumor in a Young Child With Tuberous Sclerosis Complex 1.

Mehta S et al.

Journal of the Endocrine Society, 2019

The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.

Long S et al.

Frontiers in Neurology, 2019

31139143 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_S1__gene_and_CNV

Pancreatic neuroendocrine tumor in a patient with a TSC1 variant: case report and review of the literature.

Mortaji P et al.

Familial Cancer, 2018

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."