Varaico: Literature-Extracted Genetic Variants

Gene:GLRA1
Variant:p.Q205K
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GLRA1

NM_000171.4:p.Q205K

Associated Papers

Role of the Glycine Receptor β Subunit in Synaptic Localization and Pathogenicity in Severe Startle Disease.

Wiessler AL et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2024

Functional Consequences of the Postnatal Switch From Neonatal to Mutant Adult Glycine Receptor α1 Subunits in the Shaky Mouse Model of Startle Disease.

Schaefer N et al.

Frontiers in Molecular Neuroscience, 2018

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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."