Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.V207_A216delFs
Back to variants list

ARX

NM_139058.3:p.V207_A216delFs

Associated Papers

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."