Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.R208*
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NKX2-1

NM_001079668.3:p.R208*

Associated Papers

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

Thust S et al.

Neurogenetics, 2022

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

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

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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."