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Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1109547
Abstract: Introduction: SLC13A5 citrate transporter disorder is a rare autosomal recessive genetic disease that has a constellation of neurologic symptoms. To better characterize the neurologic and clinical laboratory phenotype, we utilized patient medical records collected by…
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Keywords:
citrate;
citrate transporter;
slc13a5 citrate;
transporter disorder ... See more keywords