Varaico: Literature-Extracted Genetic Variants

Gene:F2
Variant:p.H3Q
Back to variants list

F2

NM_000506.5:p.H3Q

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: mmc7.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."