Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Q182*
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NKX2-1

NM_003317.4:p.Q182*

Associated Papers

A Case of Chorea with Slow Saccades Caused by NKX2-1 Mutation.

Vercammen J et al.

Movement Disorders Clinical Practice, 2024

Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations.

Rosati A et al.

Developmental Medicine and Child Neurology, 2015

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

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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."