Varaico: Literature-Extracted Genetic Variants

Gene:GABRB1
Variant:p.T281A
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GABRB1

NM_000812.4:p.T281A

Associated Papers

The genetic and phenotypic spectrum of GABRB1-related disorders.

Millevert C et al.

Brain : a Journal of Neurology, 2025

GABRB1-related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation.

Monfrini E et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2023

Identification of novel and de novo GABRB1 mutation in Chinese patient with developmental and epileptic encephalopathy 45.

Zhang S et al.

Intractable & Rare Diseases Research, 2023

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