Varaico: Literature-Extracted Genetic Variants

Gene:RPN2
Variant:p.D422_L429delFs
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RPN2

NM_002951.5:p.D422_L429delFs

Associated Papers

DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.

Elsharkawi I et al.

Journal of Inherited Metabolic Disease, 2023

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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."