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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GABRB1

Variant:p.L284R

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GABRB1

NM_000812.4:p.L284R

hg38:chr4:47406697 T>G

Associated Papers

The genetic and phenotypic spectrum of GABRB1-related disorders.

Millevert C et al.

Brain : a Journal of Neurology, 2025

40472023 (PubMed )

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