Varaico: Literature-Extracted Genetic Variants

Gene:TONSL
Variant:p.E494K
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TONSL

NM_013432.5:p.E494K

Associated Papers

A transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma.

Warrick JI et al.

Scientific Reports, 2022

36192513 (PubMed )
Supplement: 41598_2022_20927_MOESM14_ESM.xlsx › mutations

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM6_ESM.xlsx › Unpaired_Mutations_GBC

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC et al.

American Journal of Human Genetics, 2019

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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."