Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.R208L
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NKX2-1

NM_001079668.3:p.R208L

Associated Papers

A novel NKX2-1 frameshift variant expanding the genetic landscape of benign hereditary chorea.

Aloisio S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders.

Skwara J et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2024

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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."