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Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy. (2024)

First Author: Cario H

Attributed to: Molecular mechanisms of eukaryotic ribosome assembly funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.17863/cam.112245

Publication URI: https://www.repository.cam.ac.uk/handle/1810/374031

Type: Journal Article/Review