Varaico: Literature-Extracted Genetic Variants

Gene:GLRA1
Variant:p.R100H
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GLRA1

NM_000171.4:p.R100H

Associated Papers

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Liu F et al.

Signal Transduction and Targeted Therapy, 2021

33563892 (PubMed )
Supplement: 41392_2020_412_MOESM17_ESM.xlsx › Supplementary_Table_S16

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

Spatial Distance Correlates With Genetic Distance in Diffuse Glioma.

Gates EDH et al.

Frontiers in Oncology, 2019

31417865 (PubMed )
Supplement: Data_Sheet_2.xlsx › Table_S1

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

Hyperekplexia: treatment of a severe phenotype and review of the literature.

Mineyko A et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2011

A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.

Gregory ML et al.

Journal of Child Neurology, 2008

Startle syndromes.

Bakker MJ et al.

The Lancet. Neurology, 2006

Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.

Coto E et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2005

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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."