DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Sremba LJ, Chang RC, Elbalalesy NM, Cambray-Forker EJ, Abdenur JE.
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.
Mol Genet Metab Rep 2014;
1: 368-372
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