Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.A145_A154ins3
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ARX

NM_139058.3:p.A145_A154ins3

Associated Papers

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

Marques I et al.

Molecular Genetics & Genomic Medicine, 2015

Novel mutation in ARX associated with early hand preference and a mild phenotype.

Kuwaik GA et al.

Journal of Developmental and Behavioral Pediatrics : Jdbp, 2012

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.

Fullston T et al.

Clinical Genetics, 2011

ARX spectrum disorders: making inroads into the molecular pathology.

Shoubridge C et al.

Human Mutation, 2010

The aristaless (Arx) gene: one gene for many "interneuronopathies".

Ruggieri M et al.

Frontiers in Bioscience (elite Edition), 2010

A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.

Reish O et al.

American Journal of Medical Genetics. Part A, 2009

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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."