Varaico: Literature-Extracted Genetic Variants

Gene:GLRB
Variant:p.M99_D100Splc
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GLRB

NM_000824.5:p.M99_D100Splc

Associated Papers

[Clinical and genetic analysis of hyperekplexia in a Chinese child and literature review].

Li H et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017

The impact of human hyperekplexia mutations on glycine receptor structure and function.

Bode A et al.

Molecular Brain, 2014

Clinical features and genetic analysis of children with hyperekplexia in Korea.

Lee CG et al.

Journal of Child Neurology, 2013

Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy.

Nam SH et al.

Annals of Clinical and Laboratory Science, 2012

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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."