Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene
2015 · Gene · 39 citations
https://doi.org/10.1016/j.gene.2015.04.011
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Jaina Patel
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Jaina Patel is an academic researcher from Peconic Bay Medical Center. The author has contributed to research in topics: Metabolism and Genetic Disorders & Genomics and Rare Diseases & Epilepsy research and treatment. The author has an h-index of 10, co-authored 23 publications.
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