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P344: Renal failure in an infant with PAX2 whole-gene duplication by Kareem Zuhdi, Judith Ranells, Kara Morgan, Meghan Kelley
Published 2024-01-01
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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine by Víctor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura A. Cross, Carol J. Saunders, Bonnie R. Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka
Published 2021-02-01
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