Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.P202L
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NKX2-1

NM_003317.4:p.P202L

Associated Papers

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea.

Provenzano C et al.

Journal of the Neurological Sciences, 2016

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

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."