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doi: 10.1002/art.41935 54 HahnJMalspeisSChoiMYStevensEKarlsonEWLuBet al

described patients with mutations in the SLC39A8 gene, including p.Gly38Arg and compound heterozygotes p.Ile340Asn/p.Val33Met/p.Ser335Thr/p.Gly204Cys, who presented with a severe Mn deficiency 214