Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome?

Journal article

Open access

Peer reviewed

Ai Ling Koh, Carine Bonnard, Nur Ain Binte Ali, Bruno Reversade and Saumya Jamuar

American journal of medical genetics. Part A, Vol.188(1), pp.384-384

01/2022

PMID: 34528395

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Title: Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome?
Creators - without role: Ai Ling Koh - KK Women's and Children's Hospital
Carine Bonnard - Agency for Science, Technology and Research
Nur Ain Binte Ali - Genome Institute of Singapore
Bruno Reversade - Genome Institute of Singapore
Saumya Jamuar - KK Women's and Children's Hospital
Publication Details: American journal of medical genetics. Part A, Vol.188(1), pp.384-384
Identifiers: 9941323808331
Academic Unit: King Abdullah University of Science & Technology
Language: English
Resource Type: Journal article