Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Q202R
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NKX2-1

NM_001079668.3:p.Q202R

Associated Papers

Mutational and bioinformatics analysis of the NKX2.1 gene in a cohort of Iranian pediatric patients with congenital hypothyroidism (CH).

Heidari MM et al.

Physiology International, 2022

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

Thust S et al.

Neurogenetics, 2022

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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."