A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.
Mohammad Bilal AlsavafJeffrey M VerboonMuhammet Ensar DoğanZehra Busra AzizogluFatma Zehra OkusAlper OzcanMunis DündarAhmet EkenHamiyet Donmez-AltuntasVijay G SankaranEkrem ÜnalPublished in: British journal of haematology (2022)
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