Varaico: Literature-Extracted Genetic Variants

Gene:DBR1
Variant:p.R197*
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DBR1

NM_016216.4:p.R197*

Associated Papers

RNA Lariat-Debranching Enzyme (DBR1) Variations in Sabinas Brittle Hair Syndrome Form of Trichothiodystrophy: A Trichothiodystrophy-Causing Gene.

Khan SG et al.

The Journal of Investigative Dermatology, 2026

Human DBR1 deficiency impairs stress granule-dependent PKR antiviral immunity.

Ru S et al.

The Journal of Experimental Medicine, 2025

The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.

Elhabyan A et al.

Virus Research, 2020

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Zhang SY et al.

Cell, 2018

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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."