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Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman-Diamond Syndrome?
Ai Ling Koh
Carine Bonnard
Nur Ain Binte Ali
Bruno Reversade
Saumya Shekhar Jamuar
Published in:
American journal of medical genetics. Part A (2021)
Keyphrases
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early onset
intellectual disability
copy number
genome wide
case report
genome wide identification