(PDF) Loss of UGP2 in Brain Leads to a Severe Epileptic

Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases

doi 10.1101/799841

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Date

October 10, 2019

Authors

Herma C. van der Linde

Wilfred F.J. van IJcken

Walter G. de Valk

Evita Medici-van den Herik

Marjon van Slegtenhorst

Lauren Brick

Mariya Kozenko

Jennefer N. Kohler

Jonathan A. Bernstein

Fateme Massinaei Darmiyan

Mohammad Doosti

Ehsan Ghayoor Karimiani

Jana Vandrovcova

Faisal Zafar

Nuzhat Rana

Krishna K. Kandaswamy

Aida M. Bertoli-Avella

Tahsin Stefan Barakat

Publisher

Cold Spring Harbor Laboratory

Amanote Research

Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases

doi 10.1101/799841

Full Text

Abstract

Date

Authors

Publisher

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