Article

Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1a

2026-07-28

Abstract excerpt

Glycogen storage disease type 1a (GSD1a) is an autosomal recessive Mendelian disorder that can be caused by missense variants in glucose-6-phosphatase catalytic subunit 1 (G6PC1). Although hundreds of missense variants have been identified, the vast majority are of unknown clinical significance, and the molecular mechanism(s) of bona fide pathogenic variants are ill-defined. We combine bioinformatic data and clin...

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Literature Corpus work: c9ebd3e1-bd24-5149-be4a-16783329f632
DOI: 10.64898/2026.07.27.741017

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