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SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
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Human Mutation | February 28, 2019 | Volume: No volume available | Issue: No issue available | Pages: No page available
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
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Brain | February 23, 2017 | Volume: 140 | Issue: 5 | Pages: 1316-1336