Varaico: Literature-Extracted Genetic Variants

Gene:FAT1
Variant:p.E2552G
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FAT1

NM_005245.4:p.E2552G

Associated Papers

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

Zou DF et al.

Seizure, 2024

Clinical impact of genomic testing in patients with suspected monogenic kidney disease.

Jayasinghe K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32939031 (PubMed )
Supplement: 41436_2020_963_MOESM1_ESM.pdf

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

Ware TL et al.

Epilepsia Open, 2019

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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."