Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.R358W
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ARX

NM_139058.3:p.R358W

Associated Papers

Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.

Cain B et al.

Biorxiv : the Preprint Server for Biology, 2025

41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2

Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.

Thai MHN et al.

Human Mutation, 2020

Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.

Shoubridge C et al.

American Journal of Medical Genetics. Part A, 2019

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.

Conti V et al.

American Journal of Medical Genetics. Part A, 2011

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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."