Varaico: Literature-Extracted Genetic Variants

Gene:FAT1
Variant:p.V1847I
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FAT1

NM_005245.4:p.V1847I

Associated Papers

Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage.

Zou DF et al.

Seizure, 2024

Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling.

Fabretti F et al.

Kidney International Reports, 2021

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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."