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Journal: Genes, 2022
Volume: 13
Number: 1314
Article:
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 Gene
Authors:
by
Ibrahim Taha, Federica De Paoli, Selena Foroni, Susanna Zucca, Ivan Limongelli, Marco Cipolli, Cesare Danesino, Ugo Ramenghi and Antonella Minelli
Link:
https://www.mdpi.com/2073-4425/13/8/1314
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