Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.S217*
Back to variants list

NKX2-1

NM_001079668.3:p.S217*

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

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

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

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

Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation.

Glik A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2008

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."