Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.G463R
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ETFDH

NM_004453.4:p.G463R

Associated Papers

Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.

Hodrob T et al.

Journal of Genetic Counseling, 2025

Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.

Maguolo A et al.

Molecular Genetics and Metabolism Reports, 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."