Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Q202fs
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NKX2-1

NM_001079668.3:p.Q202fs

Associated Papers

Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.

Stoupa A et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

[DUOX2 mutations in children with congenital hypothyroidism].

Chai J et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015

[DUOX2 gene mutation in patients with congenital goiter with hypothyroidism].

Lü ZP et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011

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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."