Gene: FBXL4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773850151
rs773850151
FBXL4
T 0.700 GeneticVariation CLINVAR FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. 27743463

2017
dbSNP: rs773850151
rs773850151
FBXL4
T 0.700 GeneticVariation CLINVAR Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. 25868664

2015