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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLRB

Variant:p.S41Splc

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GLRB

NM_000824.5:p.S41Splc

hg38:chr4:157078147 G>A

Associated Papers

STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia.

Pina D et al.

Movement Disorders Clinical Practice, 2025

40192101 (PubMed )

Supplement: MDC3-12-1367-s001.docx

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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."