Varaico: Literature-Extracted Genetic Variants

Gene:NKX6-2
Variant:p.A182V
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NKX6-2

NM_177400.3:p.A182V

Associated Papers

A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.

Almatrafi A et al.

The Journal of Gene Medicine, 2020

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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."