Varaico: Literature-Extracted Genetic Variants

Gene:TCEAL1
Variant:p.A130T
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TCEAL1

NM_004780.3:p.A130T

Associated Papers

A (dis)integrated stress response: Genetic diseases of eIF2α regulators.

English AM et al.

Wiley Interdisciplinary Reviews. Rna, 2022

Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease.

Potter GB et al.

Human Molecular Genetics, 2013

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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."