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Article

Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features.

British journal of haematology - 1 Feb 2022

McCarthy Peter, Cotter Melanie, Smith Owen P

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34549814
DOI: 10.1111/bjh.17853

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