Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.P275fs
Back to variants list

NKX2-1

NM_003317.4:p.P275fs

Associated Papers

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

Soreze YD et al.

Plos One, 2025

A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8.

Shinohara H et al.

Thyroid : Official Journal of the American Thyroid Association, 2018

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."