Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Q85_H86insFs
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NKX2-1

NM_001079668.3:p.Q85_H86insFs

Associated Papers

Brain Abnormalities in Young Single- and Double-Heterozygote Mice for Both Nkx2-1- and Pax8-Null Mutations.

Giacco A et al.

Molecular Neurobiology, 2025

Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.

Montanelli L et al.

Molecular and Cellular Endocrinology, 2010

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.

Costa MC et al.

Neurogenetics, 2005

Thyroid development and its disorders: genetics and molecular mechanisms.

De Felice M et al.

Endocrine Reviews, 2004

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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."