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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GABRG2

Variant:p.L326H

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GABRG2

NM_198904.4:p.L326H

hg38:chr5:162149162 T>A

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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