Variant: rs772037717 

    present in Gene: FBXL4
    present in Chromosome: 6
    Position on Chromosome: 98875675
    Alleles of this Variant: A/G

rs772037717 in FBXL4 gene and Acidosis, Lactic PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs772037717 in FBXL4 gene and Cerebral atrophy PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs772037717 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 23993194 2013 Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

PMID 27182309 2019 Influence of Body Composition, Oral Contraceptive Use, and Physical Activity on Bone Mineral Density in Premenopausal Women.

rs772037717 in FBXL4 gene and Feeding difficulties PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs772037717 in FBXL4 gene and Global developmental delay PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs772037717 in FBXL4 gene and Mild dysmorphic features PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs772037717 in FBXL4 gene and Muscle hypotonia PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs772037717 in FBXL4 gene and Seizures PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.