Varaico: Literature-Extracted Genetic Variants

Gene:FUZ
Variant:p.R284L
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FUZ

NM_025129.5:p.R284L

Associated Papers

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.

Singh S et al.

European Journal of Human Genetics : Ejhg, 2024

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.

Barrell WB et al.

European Journal of Human Genetics : Ejhg, 2022

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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."