Varaico: Literature-Extracted Genetic Variants

Gene:GLRA1
Variant:p.R93L
Back to variants list

GLRA1

NM_000171.4:p.R93L

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."