Varaico: Literature-Extracted Genetic Variants

Gene:GABRB3
Variant:p.L170Q
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GABRB3

NM_000814.6:p.L170Q

Associated Papers

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.

Absalom NL et al.

Nature Communications, 2022

35383156 (PubMed )
Supplement: 41467_2022_29280_MOESM2_ESM.xlsx › Clinical_data
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