Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.E205*
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NKX2-1

NM_001079668.3:p.E205*

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 landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.

Lin Y et al.

Frontiers in Oncology, 2024

38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S4

Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.

Thust S et al.

Neurogenetics, 2022

Benign Hereditary Chorea: An Update.

Peall KJ et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015

A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.

Veneziano L et al.

Cerebellum (london, England), 2014

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

Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome.

Uematsu M et al.

Journal of the Neurological Sciences, 2012

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.

Costa MC et al.

Neurogenetics, 2005

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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."