Varaico: Literature-Extracted Genetic Variants

Gene:FBXL4
Variant:p.I246insFs
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FBXL4

NM_001278716.2:p.I246insFs

Associated Papers

Prenatal FBXL4-Associated Mitochondrial DNA Depletion Syndrome-13: A New Case and Review of the Literature.

Ros A et al.

Prenatal Diagnosis, 2025

Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13.

Saini N et al.

Prenatal Diagnosis, 2022

Fetal phenotypes of Mendelian disorders: A descriptive study from India.

Saini N et al.

Prenatal Diagnosis, 2022

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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."