Varaico: Literature-Extracted Genetic Variants

Gene:FBXL4
Variant:p.P284delFs
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FBXL4

NM_001278716.2:p.P284delFs

Associated Papers

Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.

Wang H et al.

Frontiers in Cardiovascular Medicine, 2021

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.

Jou C et al.

Journal of Clinical Medicine, 2019

30634555 (PubMed )
Supplement: jcm-08-00068-s001.pdf

Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome.

Emperador S et al.

Frontiers in Genetics, 2019

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

Yubero D et al.

Mitochondrion, 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."