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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GABRB1

Variant:p.E77K

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GABRB1

NM_000812.4:p.E77K

hg38:chr4:47032473 G>A

Associated Papers

Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.

Absalom NL et al.

Brain Communications, 2020

33585817 (PubMed )

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