Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Y214C
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NKX2-1

NM_003317.4:p.Y214C

Associated Papers

Genetic burden in neonatal and pediatric-onset pulmonary hypertension: A single-center retrospective study using exome sequencing in a Chinese population.

Chen C et al.

Pediatrics and Neonatology, 2025

Deciphering the pathogenicity of three NKX2-1 variants in ultra-severe forms of childhood interstitial lung disease.

Soreze YD et al.

Plos One, 2025

Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant.

Soreze Y et al.

Neonatology, 2024

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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."