Variant: rs773850151 

    present in Gene: FBXL4
    present in Chromosome: 6
    Position on Chromosome: 98899353
    Alleles of this Variant: C/G;T

rs773850151 in FBXL4 gene and Abnormality of brain morphology 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.

rs773850151 in FBXL4 gene and FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome PMID 27743463 2017 FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

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