Varaico: Literature-Extracted Genetic Variants

Gene:MSTO1
Variant:p.S305R
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MSTO1

NM_018116.4:p.S305R

Associated Papers

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Kaiyrzhanov R et al.

American Journal of Human Genetics, 2022

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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."