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https://hdl.handle.net/1887/114888
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10.1002-ajmg.a.37962
Not Applicable (or Unknown)
open access
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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
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