Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.A93_A103delFs
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NKX2-1

NM_001079668.3:p.A93_A103delFs

Associated Papers

Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report.

Gu R et al.

Medicine, 2020

Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis.

Kleinlein B et al.

Archives of Disease in Childhood. Fetal and Neonatal Edition, 2011

A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene.

Tozawa T et al.

Child Neurology Open, 0

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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."