Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.N171insFs
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TYR

NM_000372.5:p.N171insFs

Associated Papers

Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics.

Johann PD et al.

Acta Neuropathologica, 2023

37450044 (PubMed )
Supplement: 401_2023_2608_MOESM1_ESM.xlsx › Supplementary_Table_1

Inhibition of nuclear export restores nuclear localization and residual tumor suppressor function of truncated SMARCB1/INI1 protein in a molecular subset of atypical teratoid/rhabdoid tumors.

Pathak R et al.

Acta Neuropathologica, 2021

34003336 (PubMed )
Supplement: 401_2021_2328_MOESM1_ESM.xlsx › Tabelle1

Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome.

Johann PD et al.

Brain Pathology (zurich, Switzerland), 2017

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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."