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Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Ge... by Ibrahim Taha, Federica De Paoli, Selena Foroni, Susanna Zucca, Ivan Limongelli, Marco Cipolli, Cesare Danesino, Ugo Ramenghi, Antonella Minelli
Published 2022-07-01
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