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P524: Novel variants in EFL1 lead to a potential diagnosis of Shwachman-Diamond syndrome 2

John O'Shea, Jian Zhao,Pinar Bayrak-Toydemir,David Viskochil,Ashley Andrews,Lorenzo Botto,Rong Mao

Genetics in Medicine Open（2023）

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efl1,syndrome,potential diagnosis,novel variants,shwachman-diamond
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