Varaico: Literature-Extracted Genetic Variants

Gene:RBCK1
Variant:p.E243fs
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RBCK1

NM_031229.4:p.E243fs

Associated Papers

RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.

Phadke R et al.

Journal of Inherited Metabolic Disease, 2020

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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."