Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.E127insFs
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AUTS2

NM_015570.4:p.E127insFs

Associated Papers

De novo truncating variant in the FBRSL1 gene caused neurodevelopmental disorders, epilepsy, congenital heart disease, and facial dysmorphism.

Xu D et al.

Experimental Neurology, 2026

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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."