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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GABRB1

Variant:p.Y302C

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GABRB1

NM_000812.4:p.Y302C

hg38:chr4:47406751 A>G

Associated Papers

Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

Janve VS et al.

Annals of Neurology, 2016

26950270 (PubMed )

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