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Journal of Pediatric Gastroenterology and Nutrition|October 27, 2015
Plummer-Vinson Syndrome in ChildrenMathilde Butori, Sana Mahmoudi, Emmanuelle Dugelay-Ecochard, et al.
Clinical Genetics|January 31, 2020
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunctionPhilippine Garret, Frédéric Ebstein, Geoffroy Delplancq, et al.
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