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Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle

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Description scientific article published on 04 November 2019
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author: Katharina Grabmeier-Pfistershammer  Elisabeth Förster-Waldl  Heimo Lagler  Michael Ramharter 

Publication date November 4, 2019
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