Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.E334K
Back to variants list

F7

NM_019616.4:p.E334K

Associated Papers

Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency.

Pugliese A et al.

Orphanet Journal of Rare Diseases, 2026

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."