Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.E8insFs
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ARX

NM_139058.3:p.E8insFs

Associated Papers

Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.

Jackson MR et al.

Neurobiology of Disease, 2017

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

Marques I et al.

Molecular Genetics & Genomic Medicine, 2015

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.

Stepp ML et al.

Bmc Medical Genetics, 2005

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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."