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bibliographicCitation Brea‐Fernández A, Dacruz D, Eirís J, Barros F, Carracedo Á. Novel truncating variants expand the phenotypic spectrum of KAT6B‐related disorders. American J of Med Genetics Pt A. 2018 Dec 20;179(2):290–4. doi: 10.1002/ajmg.a.60689.
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title Novel truncating variants expand the phenotypic spectrum of KAT6B‐related disorders
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