Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.R191L
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NKX2-1

NM_001079668.3:p.R191L

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

Genomic Analyses of Metaplastic or Sarcomatoid Carcinomas From Different Organs Revealed Frequent Mutations in KMT2D.

Zheng B et al.

Frontiers in Molecular Biosciences, 2021

34336928 (PubMed )
Supplement: Table2.xlsx › Sheet1

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

Nattes E et al.

Respiratory Medicine, 2017

Persistent Lung Disease in Adults with NKX2.1 Mutation and Familial Neuroendocrine Cell Hyperplasia of Infancy.

Nevel RJ et al.

Annals of the American Thoracic Society, 2016

A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy.

Young LR et al.

Chest, 2013

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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."