Varaico: Literature-Extracted Genetic Variants

Gene:YIF1B
Variant:p.Y167*
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YIF1B

NM_001039672.3:p.Y167*

Associated Papers

Golgi Dysfunctions in Ciliopathies.

Masson J et al.

Cells, 2022

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.

Medico Salsench E et al.

Brain : a Journal of Neurology, 2021

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.

Diaz J et al.

Brain : a Journal of Neurology, 2020

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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."