Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Y98*
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NKX2-1

NM_001079668.3:p.Y98*

Associated Papers

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

Thust S et al.

Neurogenetics, 2022

NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.

Monti S et al.

Italian Journal of Pediatrics, 2015

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

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

Thorwarth A et al.

Journal of Medical Genetics, 2014

A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea.

Nakamura K et al.

Journal of the Neurological Sciences, 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."