GeneticsInternational Journal of Molecular SciencesPeer-reviewed
Molecular genetics of GLUT1DS Italian pediatric cohort: 10 novel related-disease variants and structural analysis
Alessia Mauri, Alessandra Duse, Giacomo Palm…·Cristina Cereda
The paper analyzes 27 Italian GLUT1DS patients, identifying 10 novel variants and correlating mutation types with clinical severity.
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