Varaico: Literature-Extracted Genetic Variants

Gene:FEM1C
Variant:p.D77Y
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FEM1C

NM_020177.3:p.D77Y

Associated Papers

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia.

Dubey AA et al.

Human Molecular Genetics, 2023

Molecular basis for ubiquitin ligase CRL2FEM1C-mediated recognition of C-degron.

Yan X et al.

Nature Chemical Biology, 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."