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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
scientific article
Author/s
author: Alex Carisey, Felipe Benavides, James R. Lupski, Richard Gibbs, Donna Muzny, Jill A Rosenfeld, Ivan K Chinn, Sébastien Küry
Work details
Publication date
May 24, 2018
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Language
English
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