Varaico: Literature-Extracted Genetic Variants

Gene:ABI2
Variant:p.R373C
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ABI2

NM_001375670.1:p.R373C

Associated Papers

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.

Hennick K et al.

Biorxiv : the Preprint Server for Biology, 2025

40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs

Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities.

Argilli E et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

The WAVE complex in developmental and adulthood brain disorders.

Kim HG et al.

Experimental & Molecular Medicine, 2025

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6
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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."