Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.D1400fs
Back to variants list

TSC2

NM_000548.5:p.D1400fs

Associated Papers

TSC2 loss in neural progenitor cells suppresses mRNA translation of neurodevelopmental genes.

Martin P et al.

Brain : a Journal of Neurology, 2025

TSC2 loss in neural progenitor cells suppresses translation of ASD/NDD-associated transcripts in an mTORC1- and MNK1/2-reversible fashion.

Martin P et al.

Biorxiv : the Preprint Server for Biology, 2024

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.

Niida Y et al.

American Journal of Human Genetics, 2001

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."