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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GABRA2

Variant:p.I230delFs

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GABRA2

NM_000807.4:p.I230delFs

hg38:chr4:46305580 TA>T

Associated Papers

GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features.

Adamo-Croux M et al.

Epilepsia, 2025

40528577 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."