Varaico: Literature-Extracted Genetic Variants

Gene:GLRA1
Variant:p.S324*
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GLRA1

NM_000171.4:p.S324*

Associated Papers

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

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

Bode A et al.

The Journal of Biological Chemistry, 2013

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.

Chung SK et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010

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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."