Varaico: Literature-Extracted Genetic Variants

Gene:GLRA1
Variant:p.W198S
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GLRA1

NM_000171.4:p.W198S

Associated Papers

Advances in hyperekplexia and other startle syndromes.

Zhan FX et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia.

Zhan F et al.

Journal of Clinical Neurology (seoul, Korea), 2020

Familial Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes

Lee Y et al.

Journal of Movement Disorders, 2017

Repository of mutations from Oman: The entry point to a national mutation database.

Rajab A et al.

F1000research, 2015

Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation.

Al-Futaisi AM et al.

Pediatric Neurology, 2012

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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."