Varaico: Literature-Extracted Genetic Variants

Gene:GLRB
Variant:p.L307R
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GLRB

NM_000824.5:p.L307R

Associated Papers

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.

Sanchis-Juan A et al.

Molecular Genetics & Genomic Medicine, 2020

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.

James VM et al.

Neurobiology of Disease, 2013

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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."