Varaico: Literature-Extracted Genetic Variants

Gene:FBXL4
Variant:p.R206L
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FBXL4

NM_001278716.2:p.R206L

Associated Papers

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

Gai X et al.

American Journal of Human Genetics, 2013

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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."