Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Y130*
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NKX2-1

NM_001079668.3:p.Y130*

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

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

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

Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations.

Parnes M et al.

Movement Disorders Clinical Practice, 2019

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

Monti S et al.

Italian Journal of Pediatrics, 2015

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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."