Associated Papers
Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy.
Cario H et al.
British Journal of Haematology, 2024
Altered Conformational Landscape upon Sensing Guanine Nucleotides in a Disease Mutant of Elongation Factor-like 1 (EFL1) GTPase.
Pérez-Juárez J et al.
Biomolecules, 2022
Exploring the role of elongation Factor-Like 1 (EFL1) in Shwachman-Diamond syndrome through molecular dynamics.
Delre P et al.
Journal of Biomolecular Structure & Dynamics, 2020
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Tan QK et al.
Cold Spring Harbor Molecular Case Studies, 2018
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