Varaico: Literature-Extracted Genetic Variants

Gene:LETM1
Variant:p.P300S
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LETM1

NM_012318.3:p.P300S

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."