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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/10.1111/bjh.19793

PubMed Identifier: 39379149

Publication URI: http://europepmc.org/abstract/MED/39379149

Type: Journal Article/Review

Volume: 205

Parent Publication: British journal of haematology

Issue: 6

ISSN: 0007-1048