Varaico: Literature-Extracted Genetic Variants

Gene:GLRA1
Variant:p.I71F
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GLRA1

NM_000171.4:p.I71F

Associated Papers

Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.

Falsaperla R et al.

Journal of Child Neurology, 2024

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

Familial Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes

Lee Y et al.

Journal of Movement Disorders, 2017

Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.

Horváth E et al.

Journal of Medical Case Reports, 2014

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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."