Associated Papers
Insights into the genotype-phenotype correlation and molecular function of SLC25A46.
Abrams AJ et al.
Human Mutation, 2018
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.
Nguyen M et al.
Clinical Genetics, 2017
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