Varaico: Literature-Extracted Genetic Variants

Gene:RBCK1
Variant:p.E243insFs
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RBCK1

NM_031229.4:p.E243insFs

Associated Papers

Met1-linked ubiquitin signalling in health and disease: inflammation, immunity, cancer, and beyond.

Jahan AS et al.

Cell Death and Differentiation, 2021

The Met1-Linked Ubiquitin Machinery: Emerging Themes of (De)regulation.

Hrdinka M et al.

Molecular Cell, 2017

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

Nilsson J et al.

Annals of Neurology, 2013

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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."