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Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

Genetic DisorderGeneticsPathologySlc25a13 GeneMolecular GeneticsCitrin DeficiencyRetrotransposal InsertionGenomicsDisease Gene IdentificationMedicineInborn Error Of ImmunityClinical Genetics