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Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome.
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- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.601566
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Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency.
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- Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 217, doi. 10.1007/s10875-022-01374-7
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- Article