Varaico: Literature-Extracted Genetic Variants

Gene:FEM1B
Variant:p.R126Q
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FEM1B

NM_015322.5:p.R126Q

Associated Papers

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

Lecoquierre F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Structural insights into the ubiquitylation strategy of the oligomeric CRL2FEM1B E3 ubiquitin ligase.

Dai Z et al.

The Embo Journal, 2024

Structural basis and regulation of the reductive stress response.

Manford AG et al.

Cell, 2021

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.

Lecoquierre F et al.

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