Varaico: Literature-Extracted Genetic Variants

Gene:NAXE
Variant:p.R129Q
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NAXE

NM_144772.3:p.R129Q

Associated Papers

A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy.

Mohammadi P et al.

Acta Neurologica Belgica, 2022

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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."