Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.L263fs
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NKX2-1

NM_003317.4:p.L263fs

Associated Papers

Deciphering the pathogenicity of three NKX2-1 variants in ultra-severe forms of childhood interstitial lung disease.

Soreze YD et al.

Plos One, 2025

A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8.

Shinohara H et al.

Thyroid : Official Journal of the American Thyroid Association, 2018

NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".

Guillot L et al.

Human Mutation, 2010

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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."