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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNAO1

Variant:p.E246delins

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GNAO1

NM_020988.3:p.E246delins

hg38:chr16:56351396 GAG>AAA

Associated Papers

Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder.

Shomer I et al.

Molecular Therapy. Nucleic Acids, 2025

39897576 (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."