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Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman–Diamond syndrome

✍ Scribed by Elísio Costa; Frederico Duque; Jorge Oliveira; Paula Garcia; Isabel Gonçalves; Luísa Diogo; Rosário Santos

No coin nor oath required. For personal study only.

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