Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.E235K
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ARX

NM_139058.3:p.E235K

Associated Papers

Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.

Lee J et al.

Molecular Genetics & Genomic Medicine, 2020

32613771 (PubMed )
Supplement: MGG3-8-e1376-s001.docx

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

Schwartz CE et al.

American Journal of Human 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."