Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia
Article in JCI Insight (November 2022)
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Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A
Article in Human Mutation (October 2022)
Juvenile Mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A
Preprint in medRxiv (August 2022)