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Issue Date | Title | Author(s) |
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27 December 2019 | De novo mutations in EIF2B1 affecting eIF2 signaling cause neonatal/early onset diabetes and transient hepatic dysfunction | ; ; ; et al. |
18 April 2019 | A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development | ; ; ; et al. |