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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DMXL2

Variant:p.W2507fs

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DMXL2

NM_015263.5:p.W2507fs

hg38:chr15:51465650 CCA>N

Associated Papers

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.

Esposito A et al.

Brain : a Journal of Neurology, 2019

31688942 (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."