BiochemistrybioRxivPreprint
Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1a
Richard A. Stein, Emily M. Hawes, Chanel M Norphlet…·Derek P. Claxton
The paper uses AlphaMissense and experimental assays to analyze 78 G6PC1 variants, identifying stability and allosteric modulation as key pathogenic mechanisms.
DOI 10.64898/2026.07.27.741017