Associated Papers
Siblings of FBXL4-related mitochondrial DNA depletion syndrome, leading to fatal fulminant pneumonia.
Akiba T et al.
Molecular Genetics and Metabolism Reports, 2025
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.
Tabansky I et al.
Frontiers in Immunology, 2022
36268024 (PubMed )
Supplement: Table_1.xlsx › Supplementary_Table_1
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
FBXL4 deficiency increases mitochondrial removal by autophagy.
Alsina D et al.
Embo Molecular Medicine, 2020
FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.
Ballout RA et al.
Frontiers in Genetics, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW et al.
Human Mutation, 2017
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