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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GABRB1

Variant:p.V359I

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GABRB1

NM_000812.4:p.V359I

hg38:chr4:47406921 G>A

Associated Papers

The genetic and phenotypic spectrum of GABRB1-related disorders.

Millevert C et al.

Brain : a Journal of Neurology, 2025

40472023 (PubMed )

Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy.

Lin ZJ et al.

Seizure, 2024

36842888 (PubMed )

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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."