Varaico: Literature-Extracted Genetic Variants

Gene:GABRB3
Variant:p.I289L
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GABRB3

NM_000814.6:p.I289L

Associated Papers

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

Mohammadi NA et al.

Ebiomedicine, 2024

38996765 (PubMed )
Supplement: mmc1.xlsx › In_silico_scores
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