Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome?

Ai Ling Koh, Carine Bonnard, Jiin Ying Lim, Woei Kang Liew, Koh Cheng Thoon, Terrence Thomas, Nur Ain Binte Ali, Alvin Yu Jin Ng, Sumanty Tohari, Kong Boo Phua, Byrappa Venkatesh, Bruno Reversade, Saumya Shekhar Jamuar

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11 Scopus citations

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Biochemistry, Genetics and Molecular Biology

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