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<i>NPRL3</i> : Direct Effects on Human Phenotypic Variability, mTOR Signaling, Subcellular mTOR Localization, Cortical Lamination, and Seizure Susceptibility

2020-12-11

Abstract excerpt

Nitrogen Permease Regulator Like 3 (NPRL3) variants are associated with malformations of cortical development (MCD) and epilepsy. We report a large (n=133) founder NPRL3 (c.349delG, p.Glu117LysFS) pedigree dating to 1727, with heterogeneous epilepsy and MCD phenotypes. Whole exome analysis in individuals with and without seizures in this cohort did not identify a genetic modifier to explain the variability in se...

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Literature Corpus work
8e5e54fd-b322-523b-b111-4113d03d60b4
DOI
10.1101/2020.12.11.421214
Open publication

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<i>NPRL3</i> : Direct Effects on Human Phenotypic Variability, mTOR Signaling, Subcellular mTOR Localization, Cortical Lamination, and Seizure SusceptibilityDOI 10.1101/2020.12.11.421214
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