Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.V262_L263delFs
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NKX2-1

NM_003317.4:p.V262_L263delFs

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

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

Nattes E et al.

Respiratory Medicine, 2017

Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature.

Nettore IC et al.

Thyroid : Official Journal of the American Thyroid Association, 2013

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.

Gras D et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2012

NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".

Guillot L et al.

Human Mutation, 2010

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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."