Varaico: Literature-Extracted Genetic Variants

Gene:GLRB
Variant:p.K34fs
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GLRB

NM_000824.5:p.K34fs

Associated Papers

A novel GLRB mutation in neonatal hyperekplexia with divergent EEG findings: a case series.

Tamimi M et al.

Annals of Medicine and Surgery (2012), 2025

Neonatal hyperekplexia: a non-epileptic paroxysmal movement disorder with a novel homozygous mutation in the GLRB gene, a seizure mimic.

Fatima H et al.

Bmj Case Reports, 2024

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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."