Varaico: Literature-Extracted Genetic Variants

Gene:GLRB
Variant:p.Y252S
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GLRB

NM_000824.5:p.Y252S

Associated Papers

Startle Disease: New Molecular Insights into an Old Neurological Disorder.

Schaefer N et al.

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2023

Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.

Aboheimed GI et al.

The Journal of Biological Chemistry, 2022

Novel Functional Properties of Missense Mutations in the Glycine Receptor β Subunit in Startle Disease.

Piro I et al.

Frontiers in Molecular Neuroscience, 2021

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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."