Varaico: Literature-Extracted Genetic Variants

Gene:FBXL4
Variant:p.K331insFs
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FBXL4

NM_001278716.2:p.K331insFs

Associated Papers

Excessive BNIP3- and BNIP3L-dependent mitophagy underlies the pathogenesis of FBXL4-mutated mitochondrial DNA depletion syndrome.

Gao K et al.

Autophagy, 2024

FBXL4 mutations cause excessive mitophagy via BNIP3/BNIP3L accumulation leading to mitochondrial DNA depletion syndrome.

Chen Y et al.

Cell Death and Differentiation, 2023

Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.

Wang H et al.

Frontiers in Cardiovascular Medicine, 2021

Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13.

Wang S et al.

Journal of the Neurological Sciences, 2020

Generation of an induced pluripotent stem cell line SHCDNi001-A from a one-year-old Chinese girl with mitochondrial DNA depletion syndrome 13.

Yuan F et al.

Stem Cell Research, 2020

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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."