Varaico: Literature-Extracted Genetic Variants

Gene:MRPS22
Variant:p.E113_A114Splc
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MRPS22

NM_020191.4:p.E113_A114Splc

Associated Papers

The Diseased Mitoribosome.

Ferrari A et al.

Febs Letters, 2021

Reply to 'contribution of the MRPS22 variant and a down mosaic to the phenotype'.

Kılıç M et al.

Metabolic Brain Disease, 2018

A patient with mitochondrial disorder due to a novel mutation in MRPS22.

Kılıç M et al.

Metabolic Brain Disease, 2017

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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."