Varaico: Literature-Extracted Genetic Variants

Gene:FBXL4
Variant:p.R206_L207insFs
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FBXL4

NM_001278716.2:p.R206_L207insFs

Associated Papers

Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models.

Lavorato M et al.

Jci Insight, 2022

35881484 (PubMed )
Supplement: jciinsight-7-156346-s236.pdf

FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.

Ballout RA et al.

Frontiers in Genetics, 2019

Molecular and clinical spectra of FBXL4 deficiency.

El-Hattab AW et al.

Human Mutation, 2017

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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."