Varaico: Literature-Extracted Genetic Variants

Gene:GABBR1
Variant:p.E368D
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GABBR1

NM_001470.4:p.E368D

Associated Papers

Genetic implication of GABAB receptors in the etiology of neurological and psychiatric disorders.

Gassmann M et al.

Frontiers in Pharmacology, 2025

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.

Watanabe K et al.

Human Genome Variation, 2023

GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.

Cediel ML et al.

American Journal of Human Genetics, 2022

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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."