Variant: rs201889294 

    present in Gene: FBXL4
    present in Chromosome: 6
    Position on Chromosome: 98899282
    Alleles of this Variant: G/A;T

rs201889294 in FBXL4 gene and Depletion of mitochondrial DNA PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 23993193 2013 Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.

PMID 27099744 2016 Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.

rs201889294 in FBXL4 gene and FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome PMID 23993193 2013 Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.

PMID 27099744 2016 Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.

rs201889294 in FBXL4 gene and Muscle hypotonia PMID 23993194 2013 Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

PMID 25868664 2015 Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

PMID 27743463 2017 FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

PMID 28940506 2017 Molecular and clinical spectra of FBXL4 deficiency.

PMID 10531035 1999 Identification of a family of human F-box proteins.

PMID 23993193 2013 Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.