Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.L230P
Back to variants list

NKX2-1

NM_001079668.3:p.L230P

Associated Papers

Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.

Thust S et al.

Neurogenetics, 2022

Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum.

Iodice A et al.

Brain & Development, 2019

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."