%0
Generic
%T
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
%A Taha, Ibrahim
%A De Paoli, Federica
%A Foroni, Selena
%A Zucca, Susanna
%A Limongelli, Ivan
%A Cipolli, Marco
%A Danesino, Cesare
%A Ramenghi, Ugo
%A Minelli, Antonella
%I MDPI AG
%@ 2073-4425
%K Genetics (clinical)
%K Genetics
%D 2022
%C MDPI AG
%U http://slubdd.de/katalog?TN_libero_mab2