Varaico: Literature-Extracted Genetic Variants

Gene:LETM1
Variant:p.K690_V691Splc
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LETM1

NM_012318.3:p.K690_V691Splc

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

36055214 (PubMed )
Supplement: mmc1.pdf
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