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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARX

Variant:p.A154insFs

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ARX

NM_139058.3:p.A154insFs

hg38:chrX:25013534 G>GC

Associated Papers

The patient-specific mouse model with Foxg1 frameshift mutation uncovers the pathophysiology of FOXG1 syndrome.

Park J et al.

Research Square, 2023

37398410 (PubMed )

Epilepsy and outcome in FOXG1-related disorders.

Seltzer LE et al.

Epilepsia, 2014

24836831 (PubMed )

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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."