Varaico: Literature-Extracted Genetic Variants

Gene:GLRA1
Variant:p.Y307delFs
Back to variants list

GLRA1

NM_000171.4:p.Y307delFs

Associated Papers

Hyperekplexia: A Single-Center Experience.

Dolu MH 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

Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene?

Huang Z et al.

Seizure, 2018

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

Gilbert SL et al.

Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2004

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."