Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.A147_A152del0
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ARX

NM_139058.3:p.A147_A152del0

Associated Papers

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.

Romero DM et al.

Nature Communications, 2022

35585091 (PubMed )
Supplement: 41467_2022_30443_MOESM1_ESM.pdf

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

Marques I et al.

Molecular Genetics & Genomic Medicine, 2015

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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."