Varaico: Literature-Extracted Genetic Variants

Gene:GLRB
Variant:p.S343F
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GLRB

NM_000824.5:p.S343F

Associated Papers

A 14-year-old girl with hyperekplexia having GLRB mutations.

Mine J et al.

Brain & Development, 2013

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.

James VM et al.

Neurobiology of Disease, 2013

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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