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
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
Lee S et al.
Blood, 2021
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