Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.S1064*
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NEK1

NM_001199397.3:p.S1064*

Associated Papers

Clinical and Genetic Characteristics of Patients with Essential Tremor Who Develop Parkinson's Disease.

Buyukserbetci G et al.

Medicina (kaunas, Lithuania), 2025

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.

Wang Z et al.

Journal of Human Genetics, 2017

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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."