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HARVARD Citation
van Dijk, T. et al. (2017). A de novo missense mutation in the inositol 1, 4, 5‐triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1‐related spinocerebellar ataxia's. American journal of medical genetics. 173 (1), pp. 207-212. [Online].