Varaico: Literature-Extracted Genetic Variants

Gene:FZR1
Variant:p.D187G
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FZR1

NM_016263.4:p.D187G

Associated Papers

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.

Manivannan SN et al.

Brain : a Journal of Neurology, 2022

A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy.

Rodríguez C et al.

Journal of Neurochemistry, 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."