Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.R264fs
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ARX

NM_139058.3:p.R264fs

Associated Papers

ARX spectrum disorders: making inroads into the molecular pathology.

Shoubridge C et al.

Human Mutation, 2010

The role of ARX in cortical development.

Friocourt G et al.

The European Journal of Neuroscience, 2006

A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia.

Bhat SS et al.

American Journal of Medical Genetics. Part A, 2005

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Kato M et al.

Human Mutation, 2004

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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."