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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GABRD

Variant:p.T108S

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GABRD

NM_000815.5:p.T108S

hg38:chr1:2025590 A>T

Associated Papers

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.

Rossi A et al.

Neurology, 2025

40570274 (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."