Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.A100_A110ins3
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ARX

NM_139058.3:p.A100_A110ins3

Associated Papers

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

Fullston T et al.

Clinical Genetics, 2011

A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.

Ekşioğlu YZ et al.

Epilepsia, 2011

ARX spectrum disorders: making inroads into the molecular pathology.

Shoubridge C et al.

Human Mutation, 2010

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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."