Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.S175*
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NKX2-1

NM_001079668.3:p.S175*

Associated Papers

A novel NKX2-1 frameshift variant expanding the genetic landscape of benign hereditary chorea.

Aloisio S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Mutational and bioinformatics analysis of the NKX2.1 gene in a cohort of Iranian pediatric patients with congenital hypothyroidism (CH).

Heidari MM et al.

Physiology International, 2022

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 related to NKX2-1 with ataxia and dystonia.

de Gusmao CM et al.

Neurology. Genetics, 2016

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

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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."