Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.A112S
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NKX2-1

NM_001079668.3:p.A112S

Associated Papers

Respiratory and other organ manifestations in NKX2-1-related disorders: a systematic review.

Michel K et al.

Frontiers in Medicine, 2025

40395234 (PubMed )
Supplement: Data_Sheet_1.xlsx › Basal_characteristics

Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene.

Salerno T et al.

Pediatric Pulmonology, 2014

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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."