Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.W238S
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NKX2-1

NM_001079668.3:p.W238S

Associated Papers

High risk of lung cancer in surfactant-related gene variant carriers.

Brudon A et al.

The European Respiratory Journal, 2024

Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.

Thust S et al.

Neurogenetics, 2022

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea.

Provenzano C et al.

Journal of the Neurological Sciences, 2016

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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."