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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GABRB2

Variant:p.Q248K

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GABRB2

NM_001371727.1:p.Q248K

hg38:chr5:161334842 G>T

Associated Papers

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

Mohammadi NA et al.

Ebiomedicine, 2024

38996765 (PubMed )

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