Varaico: Literature-Extracted Genetic Variants

Gene:ADPRS
Variant:p.C26F
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ADPRS

NM_017825.3:p.C26F

Associated Papers

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

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response.

Beijer D et al.

Life Science Alliance, 2021

Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease.

Prokhorova E et al.

Molecular Cell, 2021

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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."