Varaico: Literature-Extracted Genetic Variants

Gene:DBR1
Variant:p.I120T
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DBR1

NM_016216.4:p.I120T

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

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency.

Chan YH et al.

The Journal of Experimental Medicine, 2024

Rapid exome sequencing for children with severe acute encephalopathy - A case series.

Habib C et al.

European Journal of Medical Genetics, 2024

Inborn Errors of Immunity Predisposing to Herpes Simplex Virus Infections of the Central Nervous System.

Skouboe MK et al.

Pathogens (basel, Switzerland), 2023

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."