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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NKX6-2

Variant:p.R101S

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NKX6-2

NM_177400.3:p.R101S

hg38:chr10:132785648 G>T

Associated Papers

Is spastic ataxia 8 a protein misfolding disorder?

Ferreira-Peralta P et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024

37696463 (PubMed )

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

Chelban V et al.

European Journal of Neurology, 2020

31509304 (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."