Article

Case Report: Integrative Multiomics to Establish Pathogenicity of novel GBE1 R198T Variant

2026-04-19

Abstract excerpt

Background Glycogen Storage Disease IV (GSD IV) is a rare disease affecting 1 in every 760,000–960,000 live births. GSD IV is caused by mutations in GBE1 , especially if it affects the central catalytic core domain of the glycogen branching enzyme (GBE) protein at 184 th –600 th residue. A novel missense mutation, GBE1 R198T, was detected in a 3-year-old boy in Indonesia. This variant has not previously been r...

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Literature Corpus work: ec7d35e4-ab8f-5035-94e7-b71878f29d1f
DOI: 10.12688/f1000research.173311.1

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