Varaico: Literature-Extracted Genetic Variants

Gene:FBXL4
Variant:p.S410P
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FBXL4

NM_001278716.2:p.S410P

Associated Papers

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

Chen Y et al.

Cell Death and Differentiation, 2023

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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."