Varaico: Literature-Extracted Genetic Variants

Gene:ARID1A
Variant:p.E2145fs
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ARID1A

NM_006015.6:p.E2145fs

Associated Papers

ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape.

Tanaka Y et al.

European Journal of Medical Genetics, 2025

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.

Jacquemin V et al.

Human Genomics, 2023

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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."