Varaico: Literature-Extracted Genetic Variants

Gene:FBXL4
Variant:p.L481P
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FBXL4

NM_001278716.2:p.L481P

Associated Papers

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

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

Barøy T et al.

European Journal of Medical Genetics, 2016

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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."