Varaico: Literature-Extracted Genetic Variants

Gene:ADPRS
Variant:p.Q56*
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ADPRS

NM_017825.3:p.Q56*

Associated Papers

Recurrent Paroxysmal Torticollis as a Presenting Feature of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS).

Modage A et al.

Indian Pediatrics, 2025

An ADPRS variant disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure.

Bannister M et al.

Hgg Advances, 2025

39580621 (PubMed )
Supplement: mmc2.pdf

A novel variant in ADPRS disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure.

Bannister M et al.

Biorxiv : the Preprint Server for Biology, 2024

Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS).

Lindskov FO et al.

Cerebellum (london, England), 2024

An Indian Child with CONDSIAS Due to a Novel Variant in ADPRHL2 Gene.

Bajaj S et al.

Annals of Indian Academy of Neurology, 0

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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."