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Filters: Author is Coban-Akdemir, Zeynep H and Keyword is Exons [Clear All Filters]
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 ;102(6):1126-1142.
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