Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BPL
Variant:p.Q122*
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IRF2BPL

NM_024496.4:p.Q122*

Associated Papers

Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature.

Kristiansen K et al.

European Child & Adolescent Psychiatry, 2025

Clinical characterization of IRF2BPL mutation: Case series and review of the literature.

Lou X et al.

Medicine, 2025

IRF2BPL: A new genotype for progressive myoclonus epilepsies.

Costa C et al.

Epilepsia, 2023

IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.

Gardella E et al.

Epilepsia, 2023

IRF2BPL gene variants with dystonia: one new Chinese case report.

Yang F et al.

Bmc Neurology, 2023

36670390 (PubMed )
Supplement: 12883_2023_3077_MOESM2_ESM.pdf
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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."