Varaico: Literature-Extracted Genetic Variants

Gene:ABI2
Variant:p.R132*
Back to variants list

ABI2

NM_001375670.1:p.R132*

Associated Papers

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

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

Harripaul R et al.

Molecular Psychiatry, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."